CNV Search Result

Search by: All CNVs

Total result: 388

CNV ID	CytoBand	Size	Type	Inheritance	Related Genes
CNV_Elia[2010]_1	1p36.32	56802	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_2	1q44	18226	Deletion (hemizygous)	Paternal	C1orf100 C1orf100
CNV_Elia[2010]_3	1q42.3-1q43	78905	Duplication	Paternal	EDARADD EDARADD
CNV_Elia[2010]_4	1q31.1	63911	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_5	1p36.32	205956	Duplication	Paternal
CNV_Elia[2010]_6	1q44	251640	Duplication	Paternal	HSD17B7P1 OR11L1 OR14A16 OR14K1 OR1C1 ...... HSD17B7P1 OR11L1 OR14A16 OR14K1 OR1C1 OR2AJ1 OR2AK2 OR2L13 OR2L8 OR2L9P OR2T8 OR2W3 OR2X1P OR6R1P OR9H1P TRIM58 More...
CNV_Elia[2010]_7	1q31.3	168067	Duplication	Maternal
CNV_Elia[2010]_8	1q44	136435	Deletion (hemizygous)	Paternal	C1orf229 ZNF669 ZNF670 C1orf229 ZNF669 ZNF670
CNV_Elia[2010]_9	2p21	108003	Deletion (hemizygous)	Maternal	PLEKHH2 THADA PLEKHH2 THADA
CNV_Elia[2010]_10	2p22.3	78091	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_11	2p16.1	150246	Duplication	Maternal	RTN4 RTN4
CNV_Elia[2010]_12	2q24.3	48412	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_13	2p11.2	182565	Duplication	Maternal	IMMT MRPL35 POLR1A PTCD3 REEP1 IMMT MRPL35 POLR1A PTCD3 REEP1
CNV_Elia[2010]_14	2p12	109391	Deletion (hemizygous)	Paternal	CTNNA2 CTNNA2
CNV_Elia[2010]_15	2q32.1	93043	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_16	2q34	170499	Duplication	Maternal
CNV_Elia[2010]_17	2q32.1	76323	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_18	2p23.1	38830	Deletion (hemizygous)	Paternal	EHD3 EHD3
CNV_Elia[2010]_19	2q32.1	391252	Deletion (hemizygous)	Maternal	FSIP2 FSIP2
CNV_Elia[2010]_20	2q22.1	65334	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_21	2p16.3	61549	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_22	2q22.3	111334	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_23	3p24.1	115762	Duplication	Maternal	GADL1 GADL1
CNV_Elia[2010]_24	3p26.1	13284	Deletion (hemizygous)	Paternal	GRM7 GRM7
CNV_Elia[2010]_25	3p26.3	48275	Deletion (hemizygous)	Paternal	CNTN6 CNTN6
CNV_Elia[2010]_26	3p26.3	196042	Duplication	Maternal	CNTN6 CNTN6
CNV_Elia[2010]_27	3p26.3	17178	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_28	3q26.31	127313	Deletion (hemizygous)	Paternal	NAALADL2 NAALADL2
CNV_Elia[2010]_29	3q26.31	170734	Deletion (hemizygous)	Maternal	NAALADL2 NAALADL2
CNV_Elia[2010]_30	3q26.1	50605	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_31	3q26.1	635180	Duplication	Maternal	PDCD10 SERPINI1 SERPINI2 WDR49 ZBBX PDCD10 SERPINI1 SERPINI2 WDR49 ZBBX
CNV_Elia[2010]_32	3q13.32	41714	Deletion (hemizygous)	Paternal	B4GALT4 UPK1B B4GALT4 UPK1B
CNV_Elia[2010]_33	3q13.32	41714	Deletion (hemizygous)	Paternal	B4GALT4 UPK1B B4GALT4 UPK1B
CNV_Elia[2010]_34	3p12.2	653068	Duplication	Paternal
CNV_Elia[2010]_35	3p26.3	1080014	Duplication	Paternal	CHL1 CNTN6 CHL1 CNTN6
CNV_Elia[2010]_36	3p26.3	145541	Duplication	Maternal
CNV_Elia[2010]_37	3p22.1	75885	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_38	3q12.1	889166	Duplication	Paternal	COL8A1 DCBLD2 COL8A1 DCBLD2
CNV_Elia[2010]_39	4q13.3	50539	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_40	4q24	124469	Duplication	Maternal	TACR3 TACR3
CNV_Elia[2010]_41	4q13.3	90736	Deletion (hemizygous)	Maternal	MTHFD2L MTHFD2L
CNV_Elia[2010]_42	4q28.2	63307	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_43	4q35.2	378996	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_44	4q13.3	90736	Deletion (hemizygous)	Paternal	MTHFD2L MTHFD2L
CNV_Elia[2010]_45	4q34.1-4q34.2	221967	Duplication	Maternal
CNV_Elia[2010]_46	4q35.2	306430	Duplication	Maternal
CNV_Elia[2010]_47	4q28.3	233122	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_48	4q22.1	153395	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_49	4q32.3	64989	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_50	5p14.3	157395	Deletion (hemizygous)	Paternal	CDH12 CDH12
CNV_Elia[2010]_51	5q21.2-5q21.3	107992	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_52	5p15.1	239741	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_53	5q35.2	58780	Deletion (hemizygous)	Maternal	CPLX2 CPLX2
CNV_Elia[2010]_54	5q11.2	25916	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_55	5q21.1	120261	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_56	5q23.1	288657	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_57	5p15.2	31120	Deletion (hemizygous)	Paternal	CTNND2 CTNND2
CNV_Elia[2010]_58	5q21.3	50175	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_59	5q21.1	81776	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_60	5p15.2	385965	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_61	5p12	246241	Duplication	Maternal	GHR SEPP1 GHR SEPP1
CNV_Elia[2010]_62	5q21.2	466913	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_63	5q23.1	26510	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_64	6q14.3	55715	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_65	6q21	410080	Duplication	Paternal	ATG5 PRDM1 ATG5 PRDM1
CNV_Elia[2010]_66	6q26	109369	Deletion (hemizygous)	Paternal	PARK2 PARK2
CNV_Elia[2010]_67	6q26	101956	Duplication	Maternal	PARK2 PARK2
CNV_Elia[2010]_68	6q24.1	94669	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_69	6q16.3	17916	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_70	6q23.2	56980	Deletion (hemizygous)	Maternal	TCF21 TCF21
CNV_Elia[2010]_71	6p25.3-6p25.2	513783	Deletion (hemizygous)	Maternal	C6orf195 GMDS MYLK4 C6orf195 GMDS MYLK4
CNV_Elia[2010]_72	6q16.3	17916	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_73	6q25.1	300082	Duplication	Paternal	IYD PPP1R14C IYD PPP1R14C
CNV_Elia[2010]_74	6q14.1	140636	Duplication	Paternal
CNV_Elia[2010]_75	6q22.1	157523	Deletion (hemizygous)	Paternal	FAM162B GPRC6A KPNA5 ZUFSP FAM162B GPRC6A KPNA5 ZUFSP
CNV_Elia[2010]_76	6q27	28407	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_77	6q22.31	147606	Deletion (hemizygous)	Maternal	NKAIN2 NKAIN2
CNV_Elia[2010]_78	6p25.1-6p24.3	339325	Duplication	Paternal	RREB1 RREB1
CNV_Elia[2010]_79	6q16.3	17916	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_80	7p15.3	106406	Duplication	Paternal	TOMM7 TOMM7
CNV_Elia[2010]_81	7q33	182270	Duplication	Maternal	CHCHD3 CHCHD3
CNV_Elia[2010]_82	7p21.2	71860	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_83	7p22.2	18214	Deletion (hemizygous)	Paternal	SDK1 SDK1
CNV_Elia[2010]_84	7p21.3	50755	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_85	7q31.1	250425	Deletion (hemizygous)	Paternal	IMMP2L IMMP2L
CNV_Elia[2010]_86	7q11.21	233226	Duplication	Maternal
CNV_Elia[2010]_87	7q21.11	226412	Deletion (hemizygous)	Maternal	SEMA3E SEMA3E
CNV_Elia[2010]_88	7p22.2	27411	Deletion (hemizygous)	Paternal	SDK1 SDK1
CNV_Elia[2010]_89	7q36.2	135635	Deletion (hemizygous)	Maternal	DPP6 DPP6
CNV_Elia[2010]_90	7q21.13	54166	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_91	7q35	58496	Deletion (hemizygous)	Paternal	CNTNAP2 CNTNAP2
CNV_Elia[2010]_92	7p21.3	46140	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_93	7p22.2	857902	Duplication	Paternal	SDK1 SDK1
CNV_Elia[2010]_94	7q11.22	101748	Duplication	Maternal	AUTS2 AUTS2
CNV_Elia[2010]_95	7p15.1	327347	Duplication	Maternal	CHN2 CHN2
CNV_Elia[2010]_96	7p21.3	88165	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_97	8p22	15084	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_98	8q23.3	93931	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_99	8p23.3	176828	Duplication	Maternal	FBXO25 FBXO25
CNV_Elia[2010]_100	8q21.13	81130	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_101	8p11.1	54938	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_102	8p22	73745	Duplication	Paternal	NAT2 NAT2
CNV_Elia[2010]_103	8p23.3	27974	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_104	8p23.2	7745	Deletion (hemizygous)	Maternal	CSMD1 CSMD1
CNV_Elia[2010]_105	8q24.13	317525	Duplication	Maternal	KIAA0196 NSMCE2 SQLE KIAA0196 NSMCE2 SQLE
CNV_Elia[2010]_106	8p23.1	34166	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_107	8q12.1	196680	Duplication	Paternal
CNV_Elia[2010]_108	8p23.1	65838	Deletion (hemizygous)	Paternal	MFHAS1 MFHAS1
CNV_Elia[2010]_109	8p22	109048	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_110	8p23.2	13527	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_111	8p23.1	149565	Duplication	Paternal	DEFB134 DEFB136 DEFB134 DEFB136
CNV_Elia[2010]_112	8q24.3	78877	Duplication	Maternal
CNV_Elia[2010]_113	8p23.1	149565	Deletion (hemizygous)	Paternal	DEFB134 DEFB136 DEFB134 DEFB136
CNV_Elia[2010]_114	9p24.1	9676	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_115	9p23	34521	Deletion (hemizygous)	Paternal	PTPRD PTPRD
CNV_Elia[2010]_116	9p23	262923	Deletion (hemizygous)	Maternal	PTPRD PTPRD
CNV_Elia[2010]_117	9p23	63300	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_118	9p21.2	151980	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_119	9p23	94061	Deletion (hemizygous)	Maternal	PTPRD PTPRD
CNV_Elia[2010]_120	9p23	632730	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_121	9p23	177684	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_122	9p21.2	10042	Deletion (hemizygous)	Paternal	C9orf11 C9orf11
CNV_Elia[2010]_123	9p21.2	151980	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_124	9p24.3	91410	Deletion (hemizygous)	Maternal	DOCK8 DOCK8
CNV_Elia[2010]_125	9q31.1	61370	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_126	9p24.3	31633	Deletion (hemizygous)	Paternal	C9orf66 CBWD1 DOCK8 FOXD4 C9orf66 CBWD1 DOCK8 FOXD4
CNV_Elia[2010]_127	9p23	161680	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_128	9p24.3	97481	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_129	9p23	899044	Deletion (hemizygous)	Paternal	PTPRD PTPRD
CNV_Elia[2010]_130	9p21.1	39202	Deletion (hemizygous)	Paternal	LINGO2 LINGO2
CNV_Elia[2010]_131	10q26.11	88658	Duplication	Maternal
CNV_Elia[2010]_132	10p13	112893	Duplication	Maternal	CUBN TRDMT1 CUBN TRDMT1
CNV_Elia[2010]_133	10q21.3	152191	Deletion (hemizygous)	Paternal	CTNNA3 CTNNA3
CNV_Elia[2010]_134	10q23.1	74635	Deletion (hemizygous)	Paternal	C10orf99 CDHR1 LRIT1 LRIT2 C10orf99 CDHR1 LRIT1 LRIT2
CNV_Elia[2010]_135	10q23.31	94407	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_136	10q21.3	130112	Deletion (hemizygous)	Paternal	CTNNA3 CTNNA3
CNV_Elia[2010]_137	10q26.2	18118	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_138	10q21.1	68724	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_139	11p12	51609	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_140	11p15.4	154626	Duplication	Maternal	OR56A1 OR56A4 OR56B4 OR56A1 OR56A4 OR56B4
CNV_Elia[2010]_141	11q11	993567	Duplication	Maternal	FAM8A2P OR10AF1P OR10AG1 OR10AK1P OR2AH1P ...... FAM8A2P OR10AF1P OR10AG1 OR10AK1P OR2AH1P OR5AL1 OR5AL2P OR5AM1P OR5AP1P OR5AP2 OR5AQ1P OR5AR1 OR5AS1 OR5BE1P OR5BN1P OR5BN2P OR5D13 OR5D14 OR5D15P OR5D16 OR5D17P OR5D18 OR5D2P OR5D3P OR5F1 OR5F2P OR5I1 OR5J1P OR5J2 OR5J7P OR5L1 OR5L2 OR5M1 OR5M10 OR5M11 OR5M12P OR5M13P OR5M2P OR5M3 OR5M4P OR5M5P OR5M6P OR5M7P OR5M8 OR5M9 OR5R1 OR5T1 OR5T2 OR5T3 OR5W1P OR5W2 OR7E5P OR8H1 OR8H2 OR8H3 OR8I1P OR8I2 OR8I4P OR8J1 OR8J2 OR8J3 OR8K1 OR8K2P OR8K3 OR8K4P OR8K5 OR8L1P OR8U1 OR8V1P OR9M1P RPL5P29 SPRYD5 More...
CNV_Elia[2010]_142	11q14.3	82213	Deletion (hemizygous)	Maternal	GRM5 GRM5
CNV_Elia[2010]_143	11q22.3	365076	Duplication	Paternal	ACAT1 ATM C11orf65 EXPH5 KDELC2 ...... ACAT1 ATM C11orf65 EXPH5 KDELC2 NPAT More...
CNV_Elia[2010]_144	11p15.4	138322	Deletion (hemizygous)	Maternal	NLRP10 OR10A3 OR10A6 OR5P3 NLRP10 OR10A3 OR10A6 OR5P3
CNV_Elia[2010]_145	11p15.4	45103	Deletion (hemizygous)	Paternal	OR52M1 OR52M1
CNV_Elia[2010]_146	11q21-11q22.1	224865	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_147	11p15.4	106529	Deletion (hemizygous)	Maternal	OR10A5 OR2AG1 OR2AG2 OR6A2 OR10A5 OR2AG1 OR2AG2 OR6A2
CNV_Elia[2010]_148	12q24.31	176194	Duplication	Paternal
CNV_Elia[2010]_149	12q14.1	298360	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_150	12q21.31	208238	Duplication	Maternal
CNV_Elia[2010]_151	12q23.1	186329	Deletion (hemizygous)	Maternal	C12orf63 C12orf63
CNV_Elia[2010]_152	12p12.1	350128	Duplication	Paternal	IFLTD1 IFLTD1
CNV_Elia[2010]_153	12p13.32	159527	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_154	13q12.11	59573	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_155	13q34	499396	Duplication	Maternal	ATP11A C13orf35 F10 F7 MCF2L ATP11A C13orf35 F10 F7 MCF2L
CNV_Elia[2010]_156	13q21.33	291974	Deletion (hemizygous)	Paternal	KLHL1 KLHL1
CNV_Elia[2010]_157	13q32.3	30844	Deletion (hemizygous)	Maternal	CLYBL CLYBL
CNV_Elia[2010]_158	13q21.31	57854	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_159	13q22.1	105526	Duplication	Maternal
CNV_Elia[2010]_160	13q12.12	87776	Duplication	Paternal	SPATA13 SPATA13
CNV_Elia[2010]_161	13q31.1	114145	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_162	13q21.32	118427	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_163	13q13.3	35649	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_164	14q21.1	476512	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_165	14q31.3	47450	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_166	14q21.1-14q21.2	363262	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_167	15q21.3	145672	Duplication	Paternal	WDR72 WDR72
CNV_Elia[2010]_168	15q21.3	74699	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_169	15q21.3	61779	Deletion (hemizygous)	Paternal	UNC13C UNC13C
CNV_Elia[2010]_170	15q21.1	194323	Deletion (hemizygous)	Paternal	DUOX1 DUOX2 DUOXA1 DUOXA2 SHF ...... DUOX1 DUOX2 DUOXA1 DUOXA2 SHF SORD More...
CNV_Elia[2010]_171	15q26.3	237009	Duplication	Maternal	TARSL2 TM2D3 TARSL2 TM2D3
CNV_Elia[2010]_172	15q21.1	113422	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_173	16p13.2	88255	Deletion (hemizygous)	Paternal	RBFOX1 RBFOX1
CNV_Elia[2010]_174	16q22.1	86375	Deletion (hemizygous)	Maternal	CYB5B CYB5B
CNV_Elia[2010]_175	16q12.2	263064	Duplication	Paternal	FTO IRX3 FTO IRX3
CNV_Elia[2010]_176	16q23.2	42768	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_177	16q23.2	13291	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_178	16p13.12	12763	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_179	16q23.3-16q24.1	88215	Deletion (hemizygous)	Maternal	MBTPS1 SLC38A8 MBTPS1 SLC38A8
CNV_Elia[2010]_180	16p13.2	29054	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_181	16p13.2	47159	Deletion (hemizygous)	Maternal	RBFOX1 RBFOX1
CNV_Elia[2010]_182	16p13.2	83626	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_183	16q23.2	9100	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_184	16q24.1	41663	Deletion (hemizygous)	Paternal	ATP2C2 ATP2C2
CNV_Elia[2010]_185	16q23.1	36670	Deletion (hemizygous)	Maternal	ADAMTS18 ADAMTS18
CNV_Elia[2010]_186	16p13.3-16p13.2	711234	Duplication	Paternal	RBFOX1 RBFOX1
CNV_Elia[2010]_187	16q24.1	19183	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_188	16p13.13	21021	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_189	16q24.1	76283	Deletion (hemizygous)	Maternal	WFDC1 WFDC1
CNV_Elia[2010]_190	17q22	86423	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_191	17q12	1774728	Deletion (hemizygous)	Paternal	AATF ACACA C17orf78 DDX52 DHRS11 ...... AATF ACACA C17orf78 DDX52 DHRS11 DUSP14 GGNBP2 HNF1B LHX1 MIR2909 MRM1 MYO19 PIGW RPL18AP12 RPS2P49 RPS2P50 SYNRG TADA2A ZNHIT3 More...
CNV_Elia[2010]_192	17q11.2	578176	Duplication	Paternal	ALOX12P1 ATAD5 BLMH CPD CRLF3 ...... ALOX12P1 ATAD5 BLMH CPD CRLF3 GOSR1 KRT17P3 LRRC37BP1 RPS17P3 SH3GL1P2 SUZ12P TBC1D29 TMIGD1 More...
CNV_Elia[2010]_193	17q22	359204	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_194	18p11.21	322166	Duplication	Maternal	CEP76 PSMG2 SLMO1 SPIRE1 CEP76 PSMG2 SLMO1 SPIRE1
CNV_Elia[2010]_195	18q21.1	215031	Duplication	Maternal	MYO5B MYO5B
CNV_Elia[2010]_196	18q21.33	192514	Duplication	Maternal	TNFRSF11A ZCCHC2 TNFRSF11A ZCCHC2
CNV_Elia[2010]_197	18q23	79940	Duplication	Maternal
CNV_Elia[2010]_198	18q23	172297	Duplication	Paternal
CNV_Elia[2010]_199	18p11.21	182495	Duplication	Paternal	MC2R MC5R MC2R MC5R
CNV_Elia[2010]_200	18p11.32	163441	Duplication	Maternal	YES1 YES1
CNV_Elia[2010]_201	18p11.32	67049	Deletion (hemizygous)	Paternal	COLEC12 COLEC12
CNV_Elia[2010]_202	18q22.1	193499	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_203	19p13.2	42268	Deletion (hemizygous)	Paternal	EMR4P EMR4P
CNV_Elia[2010]_204	19p13.2	44943	Deletion (hemizygous)	Paternal	EMR4P EMR4P
CNV_Elia[2010]_205	19p12	263825	Deletion (hemizygous)	Paternal	ZNF257 ZNF676 ZNF257 ZNF676
CNV_Elia[2010]_206	19p13.2	42268	Deletion (hemizygous)	Maternal	EMR4P EMR4P
CNV_Elia[2010]_207	19p13.3	56363	Deletion (hemizygous)	Paternal	ZNF57 ZNF77 ZNF57 ZNF77
CNV_Elia[2010]_208	19p13.2	42268	Deletion (hemizygous)	Maternal	EMR4P EMR4P
CNV_Elia[2010]_209	20p12.2	150884	Duplication	Paternal	PAK7 PAK7
CNV_Elia[2010]_210	20p12.1	39933	Deletion (hemizygous)	Maternal	MACROD2 MACROD2
CNV_Elia[2010]_211	20q13.33	36935	Deletion (hemizygous)	Maternal	CDH4 CDH4
CNV_Elia[2010]_212	20p12.1	23026	Deletion (hemizygous)	Maternal	MACROD2 MACROD2
CNV_Elia[2010]_213	21q21.1	333431	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_214	21q11.2	575415	Duplication	Paternal	LOC441956 POTED LOC441956 POTED
CNV_Elia[2010]_215	22q12.3	46801	Deletion (hemizygous)	Paternal	APOL3 APOL4 APOL3 APOL4
CNV_Elia[2010]_216	22q13.33	59180	Deletion (hemizygous)	Maternal
CNV_Elia[2010]_217	22q13.31	31185	Deletion (hemizygous)	Maternal	ARHGAP8 PRR5-ARHGAP8 ARHGAP8 PRR5-ARHGAP8
CNV_Elia[2010]_218	Xq27.2	132067	Duplication	Maternal	MAGEC1 MAGEC3 MAGEC1 MAGEC3
CNV_Elia[2010]_219	Xq27.3	192683	Duplication	Paternal
CNV_Elia[2010]_220	Xq21.2-Xq21.31	583972	Duplication	Maternal
CNV_Elia[2010]_221	Xp22.2	350986	Duplication	Maternal	REPS2 REPS2
CNV_Elia[2010]_222	Xp21.3	202064	Deletion (homozygous)	Maternal
CNV_Lesch[2011]_1	3q26.1	1951305	Deletion	De novo	BCHE PDCD10 SERPINI2 WDR49 ZBBX BCHE PDCD10 SERPINI2 WDR49 ZBBX
CNV_Lesch[2011]_2	4q12	730000	Duplication	Paternal (affected)	KIAA0114 RASL11B SCFD2 USP46 KIAA0114 RASL11B SCFD2 USP46
CNV_Lesch[2011]_3	5q11.2	75620	Duplication	Maternal (affected)	PDE4D PDE4D
CNV_Lesch[2011]_4	5q12.1	283705	Deletion	Maternal (affected)	ELOVL7 ERCC8 NDUFAF2 ELOVL7 ERCC8 NDUFAF2
CNV_Lesch[2011]_5	5q13.3	192417	Duplication	Paternal (affected)	IQGAP2 SV2C IQGAP2 SV2C
CNV_Lesch[2011]_6	7p15.2-7p15.3	3060000	Duplication	Paternal (affected)	C7orf31 C7orf46 CBX3 CCDC126 CLK2P ...... C7orf31 C7orf46 CBX3 CCDC126 CLK2P CYCS DFNA5 GPNMB HNRNPA2B1 IGF2BP3 MPP6 NFE2L3 NPVF NPY NUPL2 OSBPL3 RPS2P32 STK31 TRA2A More...
CNV_Lesch[2011]_7	11q13.4	500000	Duplication	Maternal (affected, also in affected sibling)	CHCHD8 DNAJB13 FAM168A MRPL48 PAAF1 ...... CHCHD8 DNAJB13 FAM168A MRPL48 PAAF1 PLEKHB1 RAB6A UCP2 UCP3 More...
CNV_Lesch[2011]_8	17q25.1	930000	Duplication	Maternal (affected)	BTBD17 C17orf54 C17orf77 CD300A CD300C ...... BTBD17 C17orf54 C17orf77 CD300A CD300C CD300E CD300LB DNAI2 GPR142 GPRC5C KIF19 RPL38 TTYH2 More...
CNV_Lesch[2011]_9	2p25.3	280000	Duplication	Maternal (healthy)	SNTG2 TMEM18 SNTG2 TMEM18
CNV_Lesch[2011]_10	4p14	720000	Duplication	Maternal (healthy)
CNV_Lesch[2011]_11	4q26	509835	Duplication	Maternal (healthy)	ARSJ CAMK2D ARSJ CAMK2D
CNV_Lesch[2011]_12	Xq12	200000	Duplication	Not determined	EDA2R EDA2R
CNV_Lesch[2011]_13	Xq21.33	830000	Duplication	Maternal (healthy)
CNV_Lesch[2011]_14	6q16.1	216807	Deletion	De novo
CNV_Lesch[2011]_15	8q11.1	370000	Duplication	Paternal (healthy)	NCRNA00293 NCRNA00293
CNV_Lesch[2011]_16	9p21.3	119725	Deletion	Paternal (affected)
CNV_Lesch[2011]_17	12p13.31	114622	Duplication	Maternal (affected)	SLC2A14 SLC2A3 SLC2A14 SLC2A3
CNV_Williams[2010]_1	3q11.2	2344145	Gain	Maternal	EPHA6 MTRNR2L12 RPL18AP8 RPS18P6 EPHA6 MTRNR2L12 RPL18AP8 RPS18P6
CNV_Williams[2010]_2	15q13.3	882305	Gain		CHRNA7 DEPDC1P1 OTUD7A CHRNA7 DEPDC1P1 OTUD7A
CNV_Williams[2010]_3	7q31.32-7q31.33	807966	Gain		ASB15 HYAL4 HYALP1 IQUB LMOD2 ...... ASB15 HYAL4 HYALP1 IQUB LMOD2 NDUFA5 SPAM1 TMEM229A WASL More...
CNV_Williams[2010]_4	16p13.11-16p12.3	2775666	Gain	Maternal	ABCC1 ABCC6 C16orf45 FOPNL KIAA0430 ...... ABCC1 ABCC6 C16orf45 FOPNL KIAA0430 MIR3179-2 MIR3180-2 MIR484 MPV17L MYH11 NDE1 NOMO3 PKD1P1 PKD1P2 RPL15P20 RPL17P40 RPL7P47 XYLT1 More...
CNV_Williams[2010]_5	2p22.3	684866	Gain		BIRC6 LTBP1 TTC27 BIRC6 LTBP1 TTC27
CNV_Williams[2010]_6	8q21.2-8q21.3	2935186	Loss	Paternal	ACTBP6 ATP6V0D2 C8orf59 CA1 CA13 ...... ACTBP6 ATP6V0D2 C8orf59 CA1 CA13 CA2 CA3 CNBD1 CNGB3 CPNE3 E2F5 FAM82B GOLGA2P1 IGJP1 LRRCC1 PSKH2 RALYL REXO1L1 REXO1L2P REXO1L3P REXO1L4P REXO1L5P REXO1L6P REXO1L8 RPL32P4 RPL36AP31 SLC2A3P4 SLC7A13 WWP1 More...
CNV_Williams[2010]_7	17q12	1278621	Gain	Paternal	AATF ACACA C17orf78 DDX52 DHRS11 ...... AATF ACACA C17orf78 DDX52 DHRS11 DUSP14 GGNBP2 HNF1B LHX1 MIR2909 MRM1 MYO19 PIGW RPL18AP12 RPS2P49 RPS2P50 SYNRG TADA2A More...
CNV_Williams[2010]_8	17q12	1276993	Loss		AATF ACACA C17orf78 DDX52 DHRS11 ...... AATF ACACA C17orf78 DDX52 DHRS11 DUSP14 GGNBP2 HNF1B LHX1 MIR2909 MRM1 RPL18AP12 RPS2P49 RPS2P50 SYNRG TADA2A More...
CNV_Williams[2010]_9	3p26.2	922518	Gain	Maternal	ITPR1 SETMAR SUMF1 ITPR1 SETMAR SUMF1
CNV_Williams[2010]_10	3p26.3	1017195	Gain		CNTN4 CNTN6 CNTN4 CNTN6
CNV_Williams[2010]_11	7q11.22	1843201	Gain		AUTS2 CALN1 RPS28P6 WBSCR17 AUTS2 CALN1 RPS28P6 WBSCR17
CNV_Williams[2010]_12	2q23.3-2q24.1	766494	Gain	Paternal	DNAJA1P2 GALNT13 RPL23AP29 RPRM DNAJA1P2 GALNT13 RPL23AP29 RPRM
CNV_Williams[2010]_13	15q13.3	566191	Gain		CHRNA7 OTUD7A CHRNA7 OTUD7A
CNV_Williams[2010]_14	3p26.3	552285	Gain		CNTN6 CNTN6
CNV_Williams[2010]_15	3p26.3-3p26.2	1538470	Loss		CNTN4 CRBN IL5RA LRRN1 MRPS10P2 ...... CNTN4 CRBN IL5RA LRRN1 MRPS10P2 SETMAR SUMF1 TRNT1 More...
CNV_Williams[2010]_16	16p11.2	803963	Loss		ALDOA ASPHD1 BOLA2 BOLA2B C16orf53 ...... ALDOA ASPHD1 BOLA2 BOLA2B C16orf53 C16orf54 C16orf92 CD2BP2 CDIPT CORO1A DCTPP1 DOC2A FAM57B GDPD3 HIRIP3 INO80E KCTD13 MAPK3 MAZ MVP MYLPF PPP4C PRRT2 QPRT SEPHS2 SEZ6L2 SLX1A SLX1B SPN SULT1A3 SULT1A4 TAOK2 TBC1D10B TBX6 TMEM219 YPEL3 ZNF48 ZNF771 More...
CNV_Williams[2010]_17	1q23.3	701326	Loss		ATF6 DUSP12 FCGR2A FCGR2B FCGR2C ...... ATF6 DUSP12 FCGR2A FCGR2B FCGR2C FCGR3A FCGR3B FCRLA FCRLB HSPA6 HSPA7 NOS1AP OLFML2B RPL31P11 TRNAD20P TRNAE8 TRNAG31 TRNAG8 TRNAL3 TRNAL6 TRNAN12 TRNAN14 More...
CNV_Williams[2010]_18	4p15.2	3365040	Gain		ANAPC4 ATP5LP3 C4orf52 CCDC149 CCKAR ...... ANAPC4 ATP5LP3 C4orf52 CCDC149 CCKAR DHX15 LGI2 MIR573 PI4K2B RBPJ RPS29P11 SEL1L3 SEPSECS SLC34A2 SOD3 STIM2 TBC1D19 ZCCHC4 More...
CNV_Williams[2010]_19	3q26.31	1468793	Gain		NLGN1 NLGN1
CNV_Williams[2010]_20	16p13.11	788434	Gain		ABCC1 ABCC6 C16orf45 FOPNL KIAA0430 ...... ABCC1 ABCC6 C16orf45 FOPNL KIAA0430 MIR484 MPV17L MYH11 NDE1 RPL15P20 RPL17P40 More...
CNV_Williams[2010]_21	16p13.11-16p12.3	3006995	Gain		ABCC1 ABCC6 C16orf45 FOPNL KIAA0430 ...... ABCC1 ABCC6 C16orf45 FOPNL KIAA0430 MIR3179-2 MIR3180-2 MIR484 MPV17L MYH11 NDE1 NOMO3 PKD1P1 PKD1P2 RPL15P20 RPL17P40 RPL7P47 XYLT1 More...
CNV_Williams[2010]_22	15q13.3	593564	Gain		CHRNA7 OTUD7A CHRNA7 OTUD7A
CNV_Williams[2010]_23	16p13.11	797807	Gain		ABCC1 ABCC6 C16orf45 FOPNL KIAA0430 ...... ABCC1 ABCC6 C16orf45 FOPNL KIAA0430 MIR484 MPV17L MYH11 NDE1 RPL15P20 RPL17P40 More...
CNV_Williams[2010]_24	13q21.31	503322	Loss		NFYAP1 NFYAP1
CNV_Williams[2010]_25	20p12.1	1394171	Gain		C20orf7 ESF1 GAPDHP2 ISM1 MACROD2 ...... C20orf7 ESF1 GAPDHP2 ISM1 MACROD2 MRPS36P6 RPS3P1 SCYE1P SEL1L2 SPTLC3 TASP1 TRNAE43P More...
CNV_Williams[2010]_26	16p12.1	751397	Loss		C16orf52 CDR2 EEF2K PDZD9 POLR3E ...... C16orf52 CDR2 EEF2K PDZD9 POLR3E RRN3P3 SDR42E2 TRNAL27 TRNAL7 UQCRC2 VWA3A More...
CNV_Williams[2010]_27	4q13.1-4q13.2	675685	Gain		EPHA5 EPHA5
CNV_Williams[2010]_28	1q44	876470	Loss	Maternal	C1orf150 OR11L1 OR13G1 OR14A16 OR1C1 ...... C1orf150 OR11L1 OR13G1 OR14A16 OR1C1 OR2AK2 OR2C3 OR2G2 OR2G3 OR2L13 OR2L2 OR2L3 OR2L8 OR2M2 OR2M3 OR2M4 OR2M5 OR2T12 OR2T33 OR2T8 OR2W3 OR2W5 OR6F1 TRIM58 More...
CNV_Williams[2010]_29	11p15.4	1859865	Loss	De novo	APBB1 ARFIP2 C11orf42 CCKBR CNGA4 ...... APBB1 ARFIP2 C11orf42 CCKBR CNGA4 DCHS1 DNHD1 FAM160A2 FXC1 GVINP1 HBG2 HPX ILK MIR302E MRPL17 NLRP14 OLFML1 OR10A2 OR10A4 OR10A5 OR2AG1 OR2AG2 OR2D2 OR2D3 OR52B1P OR52B2 OR52E4 OR52E5 OR52E6 OR52E7P OR52E8 OR52L1 OR52L2P OR52N1 OR52N2 OR52N3P OR52N4 OR52N5 OR52P1P OR52Q1P OR52U1P OR52W1 OR52X1P OR56A1 OR56A3 OR56A4 OR56A5 OR56A7P OR56B1 OR56B2P OR56B3P OR56B4 OR6A2 PRKCDBP RBMXL2 RPL21P94 RRP8 SMPD1 SYT9 TAF10 TPP1 TRIM22 TRIM3 TRIM34 TRIM5 TRIM6 TRIM6-TRIM34 TRIM78P ZNF214 ZNF215 More...
CNV_Williams[2010]_30	11p11.12	705145	Gain		OR4C12 OR4C12
CNV_Williams[2010]_31	4q13.1-4q13.2	1246268	Gain	De novo	EPHA5 RPL6P10 EPHA5 RPL6P10
CNV_Williams[2010]_32	4q22.1	763128	Loss	De novo	ABCG2 FAM13A FAM13AOS GPRIN3 HERC3 ...... ABCG2 FAM13A FAM13AOS GPRIN3 HERC3 HERC5 HERC6 NAP1L5 PIGY PPM1K RPL31P24 TIGD2 More...
CNV_Williams[2010]_33	4p15.2	1234728	Gain	Paternal	MRPL51P1 STIM2 TBC1D19 MRPL51P1 STIM2 TBC1D19
CNV_Williams[2010]_34	16p11.2	1813248	Loss	De novo	ALDOA ASPHD1 BCKDK BCL7C BOLA2 ...... ALDOA ASPHD1 BCKDK BCL7C BOLA2 BOLA2B C16orf53 C16orf54 C16orf92 C16orf93 CA5P CD2BP2 CDIPT CORO1A CTF1 CTF2P DCTPP1 DOC2A FAM57B FBRS FBXL19 FBXL19-AS1 FUS GDPD3 HIRIP3 HSD3B7 INO80E ITGAL KCTD13 KIF22 MAPK3 MAZ MIR762 MVP MYLPF MYST1 ORAI3 PHKG2 PPP4C PRR14 PRRT2 PRSS36 PRSS53 PRSS8 PYCARD PYDC1 QPRT RNF40 RNU7-61P SEPHS2 SEPT1 SETD1A SEZ6L2 SLC7A5P1 SLX1A SLX1B SNORA30 SPN SRCAP STX1B STX4 SULT1A3 SULT1A4 TAOK2 TBC1D10B TBX6 TMEM219 TRIM72 VKORC1 YPEL3 ZG16 ZNF48 ZNF629 ZNF646 ZNF668 ZNF688 ZNF689 ZNF747 ZNF764 ZNF768 ZNF771 ZNF785 More...
CNV_Williams[2010]_35	20p13	803887	Loss	De novo	ADAM33 ATRN C20orf194 C20orf27 C20orf29 ...... ADAM33 ATRN C20orf194 C20orf27 C20orf29 CDC25B CENPB DDRGK1 FASTKD5 GFRA4 HSPA12B ITPA MAVS PANK2 ProSAPiP1 SIGLEC1 SLC4A11 SPEF1 UBOX5 More...
CNV_Williams[2010]_36	8p12	1048699	Gain		CYCSP3 RPL10AP3 RPL6P22 VENTXP5 CYCSP3 RPL10AP3 RPL6P22 VENTXP5
CNV_Williams[2010]_37	22q11.23	1306306	Gain		ADORA2A C22orf13 C22orf15 C22orf36 C22orf43 ...... ADORA2A C22orf13 C22orf15 C22orf36 C22orf43 CABIN1 CHCHD10 DDTL DERL3 GGT1 GGT5 GSTT1 GSTT2 GSTT2B IGLL1 MIF MMP11 RGL4 SLC2A11 SMARCB1 SNRPD3 SPECC1L SUSD2 UPB1 VPREB3 ZNF70 More...
CNV_Williams[2010]_38	3q26.1	1574775	Loss		C3orf57 NMD3 OTOL1 C3orf57 NMD3 OTOL1
CNV_Williams[2010]_39	16p11.2	1813247	Gain		ALDOA ASPHD1 BCKDK BCL7C BOLA2 ...... ALDOA ASPHD1 BCKDK BCL7C BOLA2 BOLA2B C16orf53 C16orf54 C16orf92 C16orf93 CD2BP2 CDIPT CORO1A CTF1 DCTPP1 DOC2A FAM57B FBRS FBXL19 FUS GDPD3 HIRIP3 HSD3B7 INO80E ITGAL KCTD13 MAPK3 MAZ MVP MYLPF MYST1 ORAI3 PHKG2 PPP4C PRR14 PRRT2 PRSS36 PRSS53 PRSS8 PYCARD PYDC1 QPRT RNF40 SEPHS2 SETD1A SEZ6L2 SLX1A SLX1B SPN SRCAP STX1B STX4 SULT1A3 SULT1A4 TAOK2 TBC1D10B TBX6 TMEM219 TRIM72 VKORC1 YPEL3 ZNF48 ZNF629 ZNF646 ZNF668 ZNF688 ZNF689 ZNF747 ZNF764 ZNF768 ZNF771 ZNF785 More...
CNV_Williams[2010]_40	11q25	880460	Gain		ACAD8 B3GAT1 GLB1L2 GLB1L3 NCAPD3 ...... ACAD8 B3GAT1 GLB1L2 GLB1L3 NCAPD3 THYN1 VPS26B More...
CNV_Williams[2010]_41	11q13.2	1167044	Gain		CPT1A GAL IFITM9P IGHMBP2 LRP5 ...... CPT1A GAL IFITM9P IGHMBP2 LRP5 MIR3164 MRGPRD MRGPRF MRPL21 MTL5 MYEOV PPP6R3 TPCN2 More...
CNV_Williams[2010]_42	16p13.11	809654	Gain		ABCC1 ABCC6 C16orf45 FOPNL KIAA0430 ...... ABCC1 ABCC6 C16orf45 FOPNL KIAA0430 MIR484 MPV17L MYH11 NDE1 RPL15P20 RPL17P40 More...
CNV_Williams[2010]_43	4q13.3-4q21.1	1076977	Gain	Paternal	BTC C4orf26 CDKL2 G3BP2 NAAA ...... BTC C4orf26 CDKL2 G3BP2 NAAA PARM1 PPEF2 RCHY1 THAP6 USO1 More...
CNV_Williams[2010]_44	15q13.3-15q14	1871368	Gain	Maternal	ARHGAP11A AVEN C15orf24 C15orf29 C15orf55 ...... ARHGAP11A AVEN C15orf24 C15orf29 C15orf55 CHRM5 FMN1 GOLGA8A GREM1 LPCAT4 MIR1233-1 NOP10 PGBD4 RPL32P2 RYR3 SCG5 SLC12A6 TMCO5B TMEM85 More...
CNV_Williams[2010]_45	1q43	1739833	Gain		CHRM3 KRT18P32 MIPEPP2 MTRNR2L11 RPL39P10 ...... CHRM3 KRT18P32 MIPEPP2 MTRNR2L11 RPL39P10 RYR2 TRNAL45P TRNAP23P ZP4 More...
CNV_Williams[2010]_46	15q11.2-15q13.1	4933636	Gain		ATP10A C15orf2 FAM18B3P GABRA5 GABRB3 ...... ATP10A C15orf2 FAM18B3P GABRA5 GABRB3 GABRG3 GOLGA6L2 HERC2P6 IPW MAGEL2 MKRN3 MRPS18CP5 NDN OCA2 PWRN1 PWRN2 RPL5P1 RPL5P32 RPL9P26 RPS27P2 SNORD107 SNORD108 SNORD109A SNORD109B SNORD115@ SNORD115-1 SNORD115-10 SNORD115-11 SNORD115-12 SNORD115-13 SNORD115-14 SNORD115-15 SNORD115-16 SNORD115-17 SNORD115-18 SNORD115-19 SNORD115-2 SNORD115-20 SNORD115-21 SNORD115-22 SNORD115-23 SNORD115-24 SNORD115-25 SNORD115-26 SNORD115-29 SNORD115-3 SNORD115-30 SNORD115-31 SNORD115-32 SNORD115-33 SNORD115-34 SNORD115-35 SNORD115-36 SNORD115-37 SNORD115-38 SNORD115-39 SNORD115-4 SNORD115-40 SNORD115-41 SNORD115-42 SNORD115-43 SNORD115-44 SNORD115-48 SNORD115-5 SNORD115-6 SNORD115-7 SNORD115-8 SNORD115-9 SNORD116@ SNORD116-1 SNORD116-10 SNORD116-11 SNORD116-12 SNORD116-13 SNORD116-14 SNORD116-15 SNORD116-16 SNORD116-17 SNORD116-18 SNORD116-19 SNORD116-2 SNORD116-20 SNORD116-21 SNORD116-22 SNORD116-23 SNORD116-24 SNORD116-25 SNORD116-26 SNORD116-27 SNORD116-28 SNORD116-29 SNORD116-3 SNORD116-4 SNORD116-5 SNORD116-6 SNORD116-7 SNORD116-8 SNORD116-9 SNORD64 SNRPN SNURF TRNAE11 UBE3A More...
CNV_Williams[2010]_47	15q13.1-15q13.2	1140363	Gain		APBA2 FAM189A1 NDNL2 TJP1 APBA2 FAM189A1 NDNL2 TJP1
CNV_Williams[2010]_48	4q32.2	631873	Loss		RPS14P7 RPS14P7
CNV_Williams[2010]_49	6q22.33-6q23.1	1646633	Gain		ARHGAP18 C6orf191 L3MBTL3 LAMA2 PTPRK ...... ARHGAP18 C6orf191 L3MBTL3 LAMA2 PTPRK SAMD3 More...
CNV_Williams[2010]_50	3q29	741671	Gain		ATP13A4 HES1 OPA1 ATP13A4 HES1 OPA1
CNV_Williams[2010]_51	15q13.1-15q13.2	1153301	Gain		APBA2 FAM189A1 HMGN2P5 NDNL2 SYNGR2P1 ...... APBA2 FAM189A1 HMGN2P5 NDNL2 SYNGR2P1 TJP1 More...
CNV_Williams[2010]_52	15q13.3	512271	Gain		CHRNA7 CHRNA7
CNV_Williams[2010]_53	16p13.11	809654	Gain	De novo	ABCC1 ABCC6 C16orf45 FOPNL KIAA0430 ...... ABCC1 ABCC6 C16orf45 FOPNL KIAA0430 MIR484 MPV17L MYH11 NDE1 RPL15P20 RPL17P40 More...
CNV_Williams[2010]_54	8q21.3	1139681	Gain	Maternal	MMP16 MMP16
CNV_Williams[2010]_55	3p26.3	561301	Gain		CNTN6 CNTN6
CNV_Williams[2010]_56	14q21.1	578113	Loss
CNV_Williams[2010]_57	2q11.2	684637	Gain		CHST10 LOC643896 LONRF2 NMS NPAS2 ...... CHST10 LOC643896 LONRF2 NMS NPAS2 PDCL3 More...
CNV_Elia[2012]_1	11q14.3	82213	Del	4:1:3(62.5%)	GRM5 GRM5
CNV_Elia[2012]_2	7q31.33	179909	Del	0:1:0(100%)	GRM8 MIR592 GRM8 MIR592
CNV_Elia[2012]_3	3p26.1	13284	Del	0:2:0(100%)	GRM7 GRM7
CNV_Elia[2012]_4	6q24.3	36972	Dup	2:0:0(100%)	GRM1 GRM1
CNV_Elia[2012]_5	1p31.1	11104	Dup	0:3:0(100%)	NEGR1 NEGR1
CNV_Elia[2012]_6	7q36.2	69230	Dup	1:2:0(100%)	DPP6 DPP6
CNV_Elia[2012]_7	5q12.3	18545	Del	2:0:2(50%)	NLN SGTB NLN SGTB
CNV_Elia[2012]_8	1p32.3	10999	Del	1:0:3(25%)	USP24 USP24
CNV_Elia[2012]_9	19q13.11	17115	Del	2:2:1(80%)	SLC7A10 SLC7A10
CNV_Elia[2012]_10	3p26.3	15722	Del	2:4:0(100%)	CNTN4 CNTN4
CNV_Elia[2012]_11	2p12	26786	Dup	1:0:1(50%)	CTNNA2 CTNNA2
CNV_Elia[2012]_12	4q25	16245	Dup	0:0:0(NA)	C4orf21 LARP7 MIR367 C4orf21 LARP7 MIR367
CNV_Elia[2012]_13	19p13.12	5245	Del		LOC126536 LOC126536
CNV_Elia[2012]_14	22q13.1	19358	Del		CACNA1I CACNA1I
CNV_Elia[2012]_15	17q25.1	8249	Del		MYO15B MYO15B
CNV_Elia[2012]_16	12q13.3	21581	Del		NDUFA4L2 NXPH4 SHMT2 STAC3 NDUFA4L2 NXPH4 SHMT2 STAC3
CNV_Elia[2012]_17	19q13.42	4642	Dup		LILRA6 LILRB3 RPS9 LILRA6 LILRB3 RPS9
CNV_Elia[2012]_18	16q24.3	83789	Del		ACSF3 CDH15 LOC283860 NCRNA00304 ACSF3 CDH15 LOC283860 NCRNA00304
CNV_Elia[2012]_19	18q22.2	8788	Del		DOK6 DOK6
CNV_Jarick[2012]_1	1p13.3	578639	dup		AKNAD1 C1orf194 CELSR2 CLCC1 GPSM2 ...... AKNAD1 C1orf194 CELSR2 CLCC1 GPSM2 KIAA1324 MYBPHL NDUFB3P1 PSRC1 RPL17P7 RPS27P6 SARS SCARNA2 SORT1 STXBP3 TAF13 TMEM167B WDR47 More...
CNV_Jarick[2012]_2	1q21.1	1350133	del		ACP6 BCL9 CCT8P1 CHD1L FAM108A2 ...... ACP6 BCL9 CCT8P1 CHD1L FAM108A2 FMO5 GJA5 GJA8 GPR89B NBPF13P NBPF24 OR13Z1P OR13Z2P OR13Z3P PDIA3P PDZK1P2 PRKAB2 RNU1-6 RPL7AP15 TRNAE32P TRNAE34P TRNAH10 TRNAH7 TRNAH9 TRNAN19 TRNAN26 TRNAQ13 TRNAQ26 TRNAQ3 TRNAQ51P TRNAQ8 TRNAR31P More...
CNV_Jarick[2012]_3	2p24.3	549042	dup		NCRNA00276 NCRNA00276
CNV_Jarick[2012]_4	2p12	1306771	dup		CTNNA2 CYCSP6 MIR4264 REG1A REG1B ...... CTNNA2 CYCSP6 MIR4264 REG1A REG1B REG1P REG3A REG3G More...
CNV_Jarick[2012]_5	2q21.1	752509	dup		ARHGEF4 CYCSP8 FAM123C FAM168B GNAQP1 ...... ARHGEF4 CYCSP8 FAM123C FAM168B GNAQP1 GPR148 MZT2A NEK2P4 NF1P8 PLEKHB2 POTEE RHOQP2 TRNAQ36P TRNAS31P TUBA3D More...
CNV_Jarick[2012]_6	3p26.3	1063962	del		CHL1 RPS8P6 CHL1 RPS8P6
CNV_Jarick[2012]_7	3p26.3	898395	del		CNTN6 CNTN6
CNV_Jarick[2012]_8	3q23	658644	dup		CLSTN2 NMNAT3 CLSTN2 NMNAT3
CNV_Jarick[2012]_9	3q26.31	656205	del		NAALADL2 UBE2V1P2 NAALADL2 UBE2V1P2
CNV_Jarick[2012]_10	4p15.1	1231062	dup		PCDH7 PCDH7
CNV_Jarick[2012]_11	4q26	1261637	dup		KRT18P21 MIR1973 MTRNR2L13 RLFP1 KRT18P21 MIR1973 MTRNR2L13 RLFP1
CNV_Jarick[2012]_12	4q32.3	993204	del		SPOCK3 SPOCK3
CNV_Jarick[2012]_13	5q33.2-5q33.3	836393	del		PPP1R2P3 SGCD TIMD4 PPP1R2P3 SGCD TIMD4
CNV_Jarick[2012]_14	5q35.3	2340579	dup		AACSP1 ADAMTS2 BTNL3 BTNL8 BTNL9 ...... AACSP1 ADAMTS2 BTNL3 BTNL8 BTNL9 C5orf45 C5orf60 CANX CBY3 CNOT6 FLT4 FOXO1B GFPT2 GRM6 HMGB3P22 HNRNPH1 LTC4S MAML1 MAPK9 MGAT1 MGAT4B MIR1229 MIR340 OR2AI1P OR2V1 OR2Y1 PIGFP1 RASGEF1C RNF130 RPL13P10 RPS15AP18 RPS29P12 RPS8P7 RUFY1 SCGB3A1 SQSTM1 TBC1D9B TRNAL24 TRNAL34 TRNAV2 TRNAV9 ZFP2 ZFP62 ZNF354B ZNF354C ZNF454 ZNF879 More...
CNV_Jarick[2012]_15	6q24.1	1194331	dup		RPS18P10 RPS3AP23 RPS18P10 RPS3AP23
CNV_Jarick[2012]_16	7q11.21	661395	dup		PHKG1P1 SEPT7P4 PHKG1P1 SEPT7P4
CNV_Jarick[2012]_17	7q11.21	655331	dup		PHKG1P1 PHKG1P1
CNV_Jarick[2012]_18	7q22.3	756661	dup		COG5 HBP1 PIK3CG PRKAR2B COG5 HBP1 PIK3CG PRKAR2B
CNV_Jarick[2012]_19	7q31.33	816560	del
CNV_Jarick[2012]_20	9q31.1-9q31.2	572275	dup		ABCA1 SLC44A1 ABCA1 SLC44A1
CNV_Jarick[2012]_21	10p12.33-10p12.32	634604	del		C10orf112 C10orf112
CNV_Jarick[2012]_22	10q11.23-10q21.1	919773	del		CSTF2T MIR605 PRKG1 CSTF2T MIR605 PRKG1
CNV_Jarick[2012]_23	10q26.3	2830749	del		ADAM8 BNIP3 C10orf125 C10orf91 C10orf92 ...... ADAM8 BNIP3 C10orf125 C10orf91 C10orf92 C10orf93 CALY CYP2E1 DPYSL4 ECHS1 GPR123 INPP5A JAKMIP3 KNDC1 LRRC27 MIR202 MIR378C MTG1 NKX6-2 OR6L1P OR6L2P OR7M1P PAOX PPP2R2D PRAP1 PWWP2B RPL5P28 SPRN SPRNP1 STK32C SYCE1 TCERG1L TUBGCP2 UTF1 VENTX ZNF511 More...
CNV_Jarick[2012]_24	11p11.12	648651	dup		PHKG1P3 TRNAA25 PHKG1P3 TRNAA25
CNV_Jarick[2012]_25	12p11.1	1277190	dup		ALG10 ST13P9 SYT10 ALG10 ST13P9 SYT10
CNV_Jarick[2012]_26	12q24.31-12q24.32	2139929	dup		AACS ATP6V0A2 BRI3BP CCDC92 DDX55 ...... AACS ATP6V0A2 BRI3BP CCDC92 DDX55 DHX37 DNAH10 EIF2B1 FAM101A GTF2H3 NCOR2 RILPL1 RILPL2 RPL22P19 RPL27P12 SCARB1 SNRNP35 TCTN2 TMED2 TMEM132B TRNAA23 TRNAA32 TRNAD15 TRNAD16 TRNAF2 UBC ZNF664 More...
CNV_Jarick[2012]_27	12q24.32-12q24.33	676004	dup		TMEM132D TMEM132D
CNV_Jarick[2012]_28	13q31.1-13q31.2	768144	del		TXNL1P1 TXNL1P1
CNV_Jarick[2012]_29	15q13.1-15q13.2	937160	dup		APBA2 FAM189A1 HMGN2P5 NDNL2 SYNGR2P1 ...... APBA2 FAM189A1 HMGN2P5 NDNL2 SYNGR2P1 TJP1 More...
CNV_Jarick[2012]_30	15q13.2-15q13.3	1504836	dup		CHRNA7 DEPDC1P1 FAN1 KLF13 MIR211 ...... CHRNA7 DEPDC1P1 FAN1 KLF13 MIR211 MTMR10 OTUD7A TRPM1 More...
CNV_Jarick[2012]_31	16p13.11	1164092	del		ABCC1 ABCC6 C16orf45 FOPNL KIAA0430 ...... ABCC1 ABCC6 C16orf45 FOPNL KIAA0430 MIR484 MPV17L MYH11 NDE1 NTAN1 PDXDC1 PKD1P6 RPL15P20 RPL17P40 RRN3 More...
CNV_Jarick[2012]_32	16p13.11	1162643	dup		ABCC1 ABCC6 C16orf45 FOPNL KIAA0430 ...... ABCC1 ABCC6 C16orf45 FOPNL KIAA0430 MIR484 MPV17L MYH11 NDE1 NTAN1 PDXDC1 PKD1P6 RPL15P20 RPL17P40 RRN3 More...
CNV_Jarick[2012]_33	16p13.11	809654	del		ABCC1 ABCC6 C16orf45 FOPNL KIAA0430 ...... ABCC1 ABCC6 C16orf45 FOPNL KIAA0430 MIR484 MPV17L MYH11 NDE1 RPL15P20 RPL17P40 More...
CNV_Jarick[2012]_34	16p12.3	770826	dup		RPL7P47 XYLT1 RPL7P47 XYLT1
CNV_Jarick[2012]_35	16p11.2	530466	del		ALDOA ASPHD1 C16orf53 C16orf54 C16orf92 ...... ALDOA ASPHD1 C16orf53 C16orf54 C16orf92 CA5P CDIPT DOC2A FAM57B GDPD3 HIRIP3 INO80E KCTD13 KIF22 MAPK3 MAZ MVP PPP4C PRRT2 QPRT SEZ6L2 SPN TAOK2 TBX6 TMEM219 YPEL3 ZG16 More...
CNV_Jarick[2012]_36	16q23.3-16q24.1	589595	dup		ADAD2 CDH13 DNAAF1 HSBP1 HSDL1 ...... ADAD2 CDH13 DNAAF1 HSBP1 HSDL1 MBTPS1 MLYCD NECAB2 OSGIN1 SLC38A8 TAF1C More...
CNV_Jarick[2012]_37	16q24.1	751889	dup		ATP2C2 COTL1 CRISPLD2 KIAA0513 KIAA1609 ...... ATP2C2 COTL1 CRISPLD2 KIAA0513 KIAA1609 KLHL36 USP10 WFDC1 ZDHHC7 More...
CNV_Jarick[2012]_38	17q25.1	695564	dup		BTBD17 C17orf77 CD300A CD300C CD300E ...... BTBD17 C17orf77 CD300A CD300C CD300E CD300LB CD300LD DNAI2 GPR142 GPRC5C KIF19 RPL38 TTYH2 More...
CNV_Jarick[2012]_39	18q22.1	2398117	del		CDH19 DSEL FAM32D RPL31P9 CDH19 DSEL FAM32D RPL31P9
CNV_Jarick[2012]_40	22q11.21	2534567	dup		AIFM3 ARVCF BCRP2 BCRP5 C22orf25 ...... AIFM3 ARVCF BCRP2 BCRP5 C22orf25 C22orf29 C22orf39 CDC45 CLDN5 CLTCL1 COMT CRKL DGCR10 DGCR11 DGCR14 DGCR2 DGCR5 DGCR6 DGCR6L DGCR8 DGCR9 DVL1L1 FAM108A5P GGTLC3 GGTLC5P GNB1L GP1BB GSC2 HIRA IGLL4P KLHL22 KRT18P5 LZTR1 MED15 MIR1286 MIR1306 MIR185 MIR649 MRPL40 P2RX6 P2RX6P PI4KA PI4KAP1 POM121L4P PRODH RANBP1 RIMBP3 RPL34P35 RPL7AP70 RPL8P5 RTN4R SCARF2 SEPT5 SERPIND1 SLC25A1 SLC7A4 SLC9A3P2 SMPD4P1 SNAP29 SUSD2P2 TBX1 THAP7 TMEM191A TMEM191B TRMT2A TSSK1A TSSK2 TXNRD2 UFD1L USP41 ZDHHC8 ZNF74 More...
CNV_Jarick[2012]_41	22q11.21	2176334	dup		AIFM3 ARVCF BCRP2 BCRP5 C22orf25 ...... AIFM3 ARVCF BCRP2 BCRP5 C22orf25 C22orf29 C22orf39 CDC45 CLDN5 CLTCL1 COMT CRKL DGCR6L DGCR8 DVL1L1 FAM108A5P GGTLC3 GGTLC5P GNB1L GP1BB HIRA IGLL4P KLHL22 KRT18P5 LZTR1 MED15 MIR1286 MIR1306 MIR185 MIR649 MRPL40 P2RX6 P2RX6P PI4KA PI4KAP1 POM121L4P RANBP1 RIMBP3 RPL7AP70 RPL8P5 RTN4R SCARF2 SEPT5 SERPIND1 SLC7A4 SLC9A3P2 SMPD4P1 SNAP29 SUSD2P2 TBX1 THAP7 TMEM191A TMEM191B TRMT2A TXNRD2 UFD1L USP41 ZDHHC8 ZNF74 More...
CNV_Jarick[2012]_42	22q11.21	726039	dup		AIFM3 BCRP2 BCRP5 CRKL FAM108A5P ...... AIFM3 BCRP2 BCRP5 CRKL FAM108A5P IGLL4P KLHL22 KRT18P5 LZTR1 MED15 MIR649 P2RX6 P2RX6P PI4KA POM121L4P SCARF2 SERPIND1 SLC7A4 SLC9A3P2 SMPD4P1 SNAP29 THAP7 TMEM191A USP41 ZNF74 More...
CNV_Jarick[2012]_43	6q26	247227	del		PARK2 PARK2
CNV_Jarick[2012]_44	6q26	305332	dup		PARK2 PARK2
CNV_Jarick[2012]_45	6q26	172278	dup		PARK2 PARK2
CNV_Jarick[2012]_46	6q26	185689	dup		PARK2 PARK2
CNV_Jarick[2012]_47	6q26	190740	dup		PARK2 PARK2
CNV_Jarick[2012]_48	6q26	160381	dup		PARK2 PARK2
CNV_Jarick[2012]_49	6q26	101516	del		PARK2 PARK2
CNV_Jarick[2012]_50	6q26	208358	del		PARK2 PARK2
CNV_Lionel[2011]_1	4q31.3	33	Loss	D	DCLK2 DCLK2
CNV_Lionel[2011]_2	10q25.1	242	Gain	D	SORCS3 SORCS3
CNV_Lionel[2011]_3	10q25.1	318	Gain	D
CNV_Lionel[2011]_4	20p12.1	109	Loss	D	MACROD2 MACROD2
CNV_Lionel[2011]_5	4p16.1	482	Gain	P	DRD5 SLC2A9 WDR1 DRD5 SLC2A9 WDR1
CNV_Lionel[2011]_6	5q35.2	131	Gain	M	CPLX2 CPLX2
CNV_Lionel[2011]_7	7q32.3	159	Gain	M	CHCHD3 CHCHD3
CNV_Lionel[2011]_8	7q36.3	1023	Gain	M	ESYT2 NCAPG2 PTPRN2 WDR60 ESYT2 NCAPG2 PTPRN2 WDR60
CNV_Lionel[2011]_9	11q13.4	147	Gain	U
CNV_Lionel[2011]_10	15q13	3666	Gain	M
CNV_Lionel[2011]_11	16p11.2	789	Gain	P
CNV_Lionel[2011]_12	3q26.1	165	Loss	P	ZBBX ZBBX
CNV_Lionel[2011]_13	3q26.1	22	Loss	U	ZBBX ZBBX
CNV_Lionel[2011]_14	6p24.2	262	Gain	M	C6orf218 GCNT2 TFAP2A C6orf218 GCNT2 TFAP2A
CNV_Lionel[2011]_15	6p24.2	92	Loss	M	GCNT2 GCNT2
CNV_Lionel[2011]_16	9q33.1	177	Loss	P	ASTN2 TRIM32 ASTN2 TRIM32
CNV_Lionel[2011]_17	9q33.1	148	Loss	U	ASTN2 TRIM32 ASTN2 TRIM32
CNV_Lionel[2011]_18	20p12.1	542	Loss	M	FLRT3 MACROD2 FLRT3 MACROD2
CNV_Lionel[2011]_19	4p16	97	Loss	M	STK32B STK32B
CNV_Lionel[2011]_20	4p12	64	Loss	M	GABRG1 GABRG1
CNV_Lionel[2011]_21	11q22.1	49	Loss	P	CNTN5 CNTN5
CNV_Lionel[2011]_22	12q24.33	211	Gain	P	ANKLE2 PGAM5 POLE PXMP2 ANKLE2 PGAM5 POLE PXMP2
CNV_Lionel[2011]_23	Xp22.11	388	Loss	M	DDX53 PTCHD1 DDX53 PTCHD1