ADHDgene Database
  • Published Variant
  • Published Gene: 359
  • Published Region: 128
  • Pathway by PBA: 8
  • Study: 361

CNV Search Result

Search by: All CNVs

Total result: 398

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 TTC34 TTC34
CNV_Elia[2010]_6 1q44 251640 Duplication Paternal OR2W3 OR2AK2 OR6R1P OR14A16 OR2L13 ...... OR2W3 OR2AK2 OR6R1P OR14A16 OR2L13 TRIM58 OR2L8 OR1C1 OR9H1P OR11L1 OR14K1 OR2X1P OR2AJ1 HSD17B7P1 OR2L9P OR2T8 More...
CNV_Elia[2010]_7 1q31.3 168067 Duplication Maternal
CNV_Elia[2010]_8 1q44 136435 Deletion (hemizygous) Paternal ZNF669 C1orf229 FGFR3P6 ZNF124 ZNF670 ZNF669 C1orf229 FGFR3P6 ZNF124 ZNF670
CNV_Elia[2010]_9 2p21 108003 Deletion (hemizygous) Maternal THADA PLEKHH2 THADA PLEKHH2
CNV_Elia[2010]_10 2p22.3 78091 Deletion (hemizygous) Paternal MRPL50P1 MRPL50P1
CNV_Elia[2010]_11 2p16.1 150246 Duplication Maternal EML6 RTN4 RNU6-433P EML6 RTN4 RNU6-433P
CNV_Elia[2010]_12 2q24.3 48412 Deletion (hemizygous) Paternal
CNV_Elia[2010]_13 2p11.2 182565 Duplication Maternal PTCD3 POLR1A MIR4779 IMMT MRPL35 ...... PTCD3 POLR1A MIR4779 IMMT MRPL35 REEP1 SNORD94 More...
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 MEAF6P1 PKP4P1 MEAF6P1 PKP4P1
CNV_Elia[2010]_17 2q32.1 76323 Deletion (hemizygous) Maternal RNU6-989P RNU6-989P
CNV_Elia[2010]_18 2p23.1 38830 Deletion (hemizygous) Paternal CAPN14 RNA5SP90 EHD3 CAPN14 RNA5SP90 EHD3
CNV_Elia[2010]_19 2q32.1 391252 Deletion (hemizygous) Maternal RPL21P32 FSIP2 RPL21P32 FSIP2
CNV_Elia[2010]_20 2q22.1 65334 Deletion (hemizygous) Maternal RN7SL283P RN7SL283P
CNV_Elia[2010]_21 2p16.3 61549 Deletion (hemizygous) Paternal
CNV_Elia[2010]_22 2q22.3 111334 Deletion (hemizygous) Maternal TEX41 TEX41
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 RPL23AP39 CNTN6 RPL23AP39
CNV_Elia[2010]_26 3p26.3 196042 Duplication Maternal CNTN6 CNTN6
CNV_Elia[2010]_27 3p26.3 17178 Deletion (hemizygous) Paternal RPL21P17 RPL21P17
CNV_Elia[2010]_28 3q26.31 127313 Deletion (hemizygous) Paternal NAALADL2-AS3 NAALADL2 NAALADL2-AS3 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 MEMO1P3 SERPINI2 PDCD10 SERPINI1 ZBBX ...... MEMO1P3 SERPINI2 PDCD10 SERPINI1 ZBBX HMGN1P8 WDR49 More...
CNV_Elia[2010]_32 3q13.32 41714 Deletion (hemizygous) Paternal UPK1B B4GALT4 B4GALT4-AS1 UPK1B B4GALT4 B4GALT4-AS1
CNV_Elia[2010]_33 3q13.32 41714 Deletion (hemizygous) Paternal UPK1B B4GALT4 B4GALT4-AS1 UPK1B B4GALT4 B4GALT4-AS1
CNV_Elia[2010]_34 3p12.2 653068 Duplication Paternal
CNV_Elia[2010]_35 3p26.3 1080014 Duplication Paternal RPS8P6 RNU6-1194P CHL1-AS1 CNTN6 CHL1-AS2 ...... RPS8P6 RNU6-1194P CHL1-AS1 CNTN6 CHL1-AS2 CHL1 RN7SL120P More...
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 DCBLD2 COL8A1 ACTG1P13 RNU6-1263P LINC00973 DCBLD2 COL8A1 ACTG1P13 RNU6-1263P LINC00973
CNV_Elia[2010]_39 4q13.3 50539 Deletion (hemizygous) Maternal
CNV_Elia[2010]_40 4q24 124469 Duplication Maternal TACR3 DDX3YP3 TACR3 DDX3YP3
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 ADAM20P3 ADAM20P3
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 CCSER1 CCSER1
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 RAB9BP1 RAB9BP1
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 RNA5SP182 RNA5SP182
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 CT49 CT49
CNV_Elia[2010]_61 5p12 246241 Duplication Maternal SEPP1 GHR CCDC152 SEPP1 GHR CCDC152
CNV_Elia[2010]_62 5q21.2 466913 Deletion (hemizygous) Maternal RNU6-334P RAB9BP1 RNU6-334P RAB9BP1
CNV_Elia[2010]_63 5q23.1 26510 Deletion (hemizygous) Paternal COMMD10 COMMD10
CNV_Elia[2010]_64 6q14.3 55715 Deletion (hemizygous) Maternal
CNV_Elia[2010]_65 6q21 410080 Duplication Paternal RNU6-344P RN7SL47P RNA5SP211 PRDM1 ATG5 RNU6-344P RN7SL47P RNA5SP211 PRDM1 ATG5
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 RPS3AP23 RPS3AP23
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 MYLK4 GMDS-AS1 HMGN2P28 GMDS C6orf195 MYLK4 GMDS-AS1 HMGN2P28 GMDS
CNV_Elia[2010]_72 6q16.3 17916 Deletion (hemizygous) Maternal
CNV_Elia[2010]_73 6q25.1 300082 Duplication Paternal PPP1R14C RNU4-7P SSR1P1 IYD PPP1R14C RNU4-7P SSR1P1 IYD
CNV_Elia[2010]_74 6q14.1 140636 Duplication Paternal
CNV_Elia[2010]_75 6q22.1 157523 Deletion (hemizygous) Paternal FAM162B ZUFSP KPNA5 GPRC6A FAM162B ZUFSP KPNA5 GPRC6A
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 RN7SL554P RREB1 RN7SL554P RREB1
CNV_Elia[2010]_79 6q16.3 17916 Deletion (hemizygous) Paternal
CNV_Elia[2010]_80 7p15.3 106406 Duplication Paternal SNORD93 TOMM7 SNORD93 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 GUSBP6 ZNF679 ZNF736 VN1R37P VN1R38P GUSBP6 ZNF679 ZNF736 VN1R37P VN1R38P
CNV_Elia[2010]_87 7q21.11 226412 Deletion (hemizygous) Maternal SEMA3E RAD23BP2 SEMA3E RAD23BP2
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 STEAP2-AS1 STEAP2-AS1
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 CPVL CHN2 NANOGP4 CPVL CHN2 NANOGP4
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 FAM87A FBXO25 FAM87A 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 NATP NAT2 NATP 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 SQLE RN7SL329P KIAA0196-AS1 NSMCE2 KIAA0196 SQLE RN7SL329P KIAA0196-AS1 NSMCE2 KIAA0196
CNV_Elia[2010]_106 8p23.1 34166 Deletion (hemizygous) Maternal
CNV_Elia[2010]_107 8q12.1 196680 Duplication Paternal RNU7-174P RNU7-174P
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 CSMD1 CSMD1
CNV_Elia[2010]_111 8p23.1 149565 Duplication Paternal OR7E158P DEFB136 DEFB135 OR7E161P OR7E160P ...... OR7E158P DEFB136 DEFB135 OR7E161P OR7E160P DEFB134 More...
CNV_Elia[2010]_112 8q24.3 78877 Duplication Maternal ZNF252P-AS1 TMED10P1 ZNF252P ZNF252P-AS1 TMED10P1 ZNF252P
CNV_Elia[2010]_113 8p23.1 149565 Deletion (hemizygous) Paternal OR7E158P DEFB136 DEFB135 OR7E161P OR7E160P ...... OR7E158P DEFB136 DEFB135 OR7E161P OR7E160P DEFB134 More...
CNV_Elia[2010]_114 9p24.1 9676 Deletion (hemizygous) Maternal RNF2P1 RNF2P1
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 RNU2-47P RNU2-47P
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 RNU2-47P RNU2-47P
CNV_Elia[2010]_121 9p23 177684 Deletion (hemizygous) Paternal
CNV_Elia[2010]_122 9p21.2 10042 Deletion (hemizygous) Paternal EQTN EQTN
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 RN7SL5P PTPRD RN7SL5P
CNV_Elia[2010]_130 9p21.1 39202 Deletion (hemizygous) Paternal
CNV_Elia[2010]_131 10q26.11 88658 Duplication Maternal LDHAP5 LDHAP5
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 LRIT2 C10orf99 LRIT1 CDHR1 LRIT2 C10orf99 LRIT1 CDHR1
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 C10orf90 C10orf90
CNV_Elia[2010]_138 10q21.1 68724 Deletion (hemizygous) Paternal RN7SKP196 RN7SKP196
CNV_Elia[2010]_139 11p12 51609 Deletion (hemizygous) Paternal
CNV_Elia[2010]_140 11p15.4 154626 Duplication Maternal OR56A1 OR56A7P RNA5SP329 OR52L2P OR52X1P ...... OR56A1 OR56A7P RNA5SP329 OR52L2P OR52X1P OR56A4 OR56B4 KRT18P58 OR56B3P More...
CNV_Elia[2010]_141 11q11 993567 Duplication Maternal OR8K3 OR7E5P OR8K4P OR5BN1P OR5AL2P ...... OR8K3 OR7E5P OR8K4P OR5BN1P OR5AL2P FAM8A2P OR5J1P OR5J7P OR5L1 OR5D18 OR5T2 OR8H3 OR8J1 OR8H1 OR5M5P OR5M1 OR5BE1P OR5D14 OR5AP2 OR5M12P OR8I1P TRIM51 OR5M13P RPL5P29 OR5D2P OR2AH1P OR5I1 OR5T3 OR5M6P OR10AK1P OR5M7P OR8I2 OR5AL1 OR8U1 OR5M10 OR5J2 OR5AM1P OR5T1 OR8J3 OR5W2 OR5L2 OR5AS1 OR5M11 OR5M8 OR8V1P OR5M2P OR5D3P OR8J2 OR8H2 OR8K2P OR5AR1 OR8K1 OR5AP1P OR5D15P OR5M9 OR8L1P OR5D13 OR10AG1 OR5D17P OR5W1P OR5F1 OR8K5 OR5R1 OR5M4P OR5D16 OR10AF1P OR9M1P OR5F2P OR5M3 OR5BN2P OR8I4P OR5AQ1P 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 KDELC2 NPAT ...... ACAT1 ATM C11orf65 KDELC2 NPAT EXPH5 More...
CNV_Elia[2010]_144 11p15.4 138322 Deletion (hemizygous) Maternal OR10A3 OR5P3 NLRP10 OR10A6 RNU6-943P ...... OR10A3 OR5P3 NLRP10 OR10A6 RNU6-943P OR5E1P More...
CNV_Elia[2010]_145 11p15.4 45103 Deletion (hemizygous) Paternal OR52M1 OR52M2P OR52M1 OR52M2P
CNV_Elia[2010]_146 11q21-11q22.1 224865 Deletion (hemizygous) Paternal MED28P5 MED28P5
CNV_Elia[2010]_147 11p15.4 106529 Deletion (hemizygous) Maternal OR2AG2 OR2AG1 OR6A2 OR10A5 OR2AG2 OR2AG1 OR6A2 OR10A5
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 C12orf55 C12orf55
CNV_Elia[2010]_152 12p12.1 350128 Duplication Paternal RNU4-67P IFLTD1 TUBB4BP1 RNU4-67P IFLTD1 TUBB4BP1
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 F10 C13orf35 ATP11A ATP11A-AS1 MCF2L-AS1 ...... F10 C13orf35 ATP11A ATP11A-AS1 MCF2L-AS1 KARSP2 F10-AS1 F7 MCF2L More...
CNV_Elia[2010]_156 13q21.33 291974 Deletion (hemizygous) Paternal KLHL1 ATXN8OS KLHL1 ATXN8OS
CNV_Elia[2010]_157 13q32.3 30844 Deletion (hemizygous) Maternal CLYBL CLYBL
CNV_Elia[2010]_158 13q21.31 57854 Deletion (hemizygous) Paternal LINC00448 LINC00448
CNV_Elia[2010]_159 13q22.1 105526 Duplication Maternal RNY1P8 RNY1P8
CNV_Elia[2010]_160 13q12.12 87776 Duplication Paternal MIR2276 IPO7P2 SPATA13 MIR2276 IPO7P2 SPATA13
CNV_Elia[2010]_161 13q31.1 114145 Deletion (hemizygous) Paternal
CNV_Elia[2010]_162 13q21.32 118427 Deletion (hemizygous) Paternal LINC01052 LINC01052
CNV_Elia[2010]_163 13q13.3 35649 Deletion (hemizygous) Maternal TCEAL4P1 TCEAL4P1
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 RNU2-53P WDR72 RNU2-53P
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 SORD DUOXA1 DUOX1 SHF DUOXA2 ...... SORD DUOXA1 DUOX1 SHF DUOXA2 DUOX2 More...
CNV_Elia[2010]_171 15q26.3 237009 Duplication Maternal RNU6-807P PCSK6 TM2D3 TARSL2 RNU6-807P PCSK6 TM2D3 TARSL2
CNV_Elia[2010]_172 15q21.1 113422 Deletion (hemizygous) Paternal RN7SKP101 RN7SKP101
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 IRX3 FTO-IT1 FTO IRX3 FTO-IT1 FTO
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 SLC38A8 MBTPS1 RNA5SP432 SLC38A8 MBTPS1 RNA5SP432
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 RNU7-99P RBFOX1 RNU7-99P RBFOX1
CNV_Elia[2010]_187 16q24.1 19183 Deletion (hemizygous) Paternal TLDC1 TLDC1
CNV_Elia[2010]_188 16p13.13 21021 Deletion (hemizygous) Paternal
CNV_Elia[2010]_189 16q24.1 76283 Deletion (hemizygous) Maternal WFDC1 RNA5SP433 WFDC1 RNA5SP433
CNV_Elia[2010]_190 17q22 86423 Deletion (hemizygous) Paternal
CNV_Elia[2010]_191 17q12 1774728 Deletion (hemizygous) Paternal C17orf78 HMGB1P24 DUSP14 SYNRG ACACA ...... C17orf78 HMGB1P24 DUSP14 SYNRG ACACA LHX1 PIGW RNA5SP439 GGNBP2 MRM1 TADA2A MYO19 ZNHIT3 DHRS11 DDX52 AATF MIR2909 HNF1B More...
CNV_Elia[2010]_192 17q11.2 578176 Duplication Paternal CPD TBC1D29 LRRC37BP1 GOSR1 CRLF3 ...... CPD TBC1D29 LRRC37BP1 GOSR1 CRLF3 RNU6-1267P ALOX12P1 ATAD5 KRT17P3 TMIGD1 SH3GL1P2 RNU6-990P RN7SL316P BLMH SMURF2P1 More...
CNV_Elia[2010]_193 17q22 359204 Deletion (hemizygous) Maternal
CNV_Elia[2010]_194 18p11.21 322166 Duplication Maternal SPIRE1 CEP76 PSMG2 SLMO1 SPIRE1 CEP76 PSMG2 SLMO1
CNV_Elia[2010]_195 18q21.1 215031 Duplication Maternal ADAD1P2 RNA5SP457 MYO5B ADAD1P2 RNA5SP457 MYO5B
CNV_Elia[2010]_196 18q21.33 192514 Duplication Maternal ZCCHC2 ACTBP9 TNFRSF11A RPL17P44 ZCCHC2 ACTBP9 TNFRSF11A RPL17P44
CNV_Elia[2010]_197 18q23 79940 Duplication Maternal BDP1P BDP1P
CNV_Elia[2010]_198 18q23 172297 Duplication Paternal
CNV_Elia[2010]_199 18p11.21 182495 Duplication Paternal MC5R MC2R MC5R MC2R
CNV_Elia[2010]_200 18p11.32 163441 Duplication Maternal RNU1-109P YES1 RNU1-109P YES1
CNV_Elia[2010]_201 18p11.32 67049 Deletion (hemizygous) Paternal COLEC12 COLEC12
CNV_Elia[2010]_202 18q22.1 193499 Deletion (hemizygous) Paternal AKR1B10P2 AKR1B10P2
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 ZNF729 ZNF92P2 PCGF7P ...... ZNF257 ZNF676 ZNF729 ZNF92P2 PCGF7P VN1R85P More...
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 RNU4-45P MAPK6PS2 RNU4-45P MAPK6PS2
CNV_Elia[2010]_214 21q11.2 575415 Duplication Paternal MIR3156-3 POTED GRAMD4P1 FGF7P2 GTF2IP2 ...... MIR3156-3 POTED GRAMD4P1 FGF7P2 GTF2IP2 OR4K11P CXADRP1 CYP4F29P VN1R8P CNN2P7 ANKRD30BP1 MIR3118-5 TERF1P1 OR4K12P RNU6-286P ZNF114P1 FEM1AP1 SNX19P1 FAM207CP GXYLT1P2 More...
CNV_Elia[2010]_215 22q12.3 46801 Deletion (hemizygous) Paternal APOL4 MTND1P10 APOL3 APOL4 MTND1P10 APOL3
CNV_Elia[2010]_216 22q13.33 59180 Deletion (hemizygous) Maternal C22orf34 C22orf34
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 CBX1P4 CBX1P2 REPS2 CBX1P4 CBX1P2 REPS2
CNV_Elia[2010]_222 Xp21.3 202064 Deletion (homozygous) Maternal
CNV_Lesch[2011]_1 3q26.1 1951305 Deletion De novo CBX1P5 SERPINI2 RN7SKP298 MTND4P17 PDCD10 ...... CBX1P5 SERPINI2 RN7SKP298 MTND4P17 PDCD10 PSAT1P4 MTND3P7 BCHE ZBBX HMGN1P8 WDR49 More...
CNV_Lesch[2011]_2 4q12 730000 Duplication Paternal (affected) SNORA26 USP46-AS1 USP46 ERVMER34-1 SCFD2 ...... SNORA26 USP46-AS1 USP46 ERVMER34-1 SCFD2 RNU6-1252P DANCR RASL11B MIR4449 More...
CNV_Lesch[2011]_3 5q11.2 75620 Duplication Maternal (affected) PDE4D PDE4D
CNV_Lesch[2011]_4 5q12.1 283705 Deletion Maternal (affected) GNL3LP1 NDUFAF2 ELOVL7 ERCC8 KRT8P31 GNL3LP1 NDUFAF2 ELOVL7 ERCC8 KRT8P31
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) NUPL2 TSEN15P3 FAM221A MPP6 MIR148A ...... NUPL2 TSEN15P3 FAM221A MPP6 MIR148A DFNA5 CYCS RNU6-1103P OSBPL3 FCF1P1 MALSU1 NPY RNA5SP228 TRA2A CCDC126 PCMTD1P3 NFE2L3 GPNMB C7orf31 HNRNPA2B1 RPS2P32 NPVF RNU7-143P STK31 CBX3 IGF2BP3 More...
CNV_Lesch[2011]_7 11q13.4 500000 Duplication Maternal (affected, also in affected sibling) UCP3 RAB6A HMGN2P38 CCDC58P5 PAAF1 ...... UCP3 RAB6A HMGN2P38 CCDC58P5 PAAF1 COA4 UCP2 RN7SKP243 DNAJB13 FAM168A PLEKHB1 MRPL48 More...
CNV_Lesch[2011]_8 17q25.1 930000 Duplication Maternal (affected) KIF19 CD300LD GPRC5C TTYH2 C17orf77 ...... KIF19 CD300LD GPRC5C TTYH2 C17orf77 RPL38 CD300LB CD300A CD300E BTBD17 DNAI2 CD300C RAB37 GPR142 LINC00469 RNA5SP448 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) CAMK2D ARSJ CAMK2D ARSJ
CNV_Lesch[2011]_12 Xq12 200000 Duplication Not determined EDA2R PKMP2 EDA2R PKMP2
CNV_Lesch[2011]_13 Xq21.33 830000 Duplication Maternal (healthy) MIR548M CCNB1IP1P3 CALM1P1 MIR548M CCNB1IP1P3 CALM1P1
CNV_Lesch[2011]_14 6q16.1 216807 Deletion De novo
CNV_Lesch[2011]_15 8q11.1 370000 Duplication Paternal (healthy) ASNSP1 ASNSP4 MTND1P7 TRIM60P15 LINC00293 ...... ASNSP1 ASNSP4 MTND1P7 TRIM60P15 LINC00293 MTND6P20 RNU6-656P More...
CNV_Lesch[2011]_16 9p21.3 119725 Deletion Paternal (affected)
CNV_Lesch[2011]_17 12p13.31 114622 Duplication Maternal (affected) NANOGP1 SLC2A3 SLC2A14 NANOGP1 SLC2A3 SLC2A14
CNV_Williams[2010]_1 3q11.2 2344145 Gain Maternal EPHA6 MTRNR2L12 RPL18AP8 RPS18P6 RCC2P5 ...... EPHA6 MTRNR2L12 RPL18AP8 RPS18P6 RCC2P5 LINC00879 RNU6-1094P CDV3P1 MTHFD2P1 HNRNPKP4 More...
CNV_Williams[2010]_2 15q13.3 882305 Gain OTUD7A CHRNA7 OTUD7A CHRNA7
CNV_Williams[2010]_3 7q31.32-7q31.33 807966 Gain RNU6-11P LMOD2 HYAL4 NDUFA5 IQUB ...... RNU6-11P LMOD2 HYAL4 NDUFA5 IQUB TMEM229A ASB15 HYALP1 WASL SPAM1 RNU6-296P More...
CNV_Williams[2010]_4 16p13.11-16p12.3 2775666 Gain Maternal RPL17P40 MYH11 XYLT1 RN7SL90P MIR484 ...... RPL17P40 MYH11 XYLT1 RN7SL90P MIR484 RNU6-213P NPIPA7 MPV17L MIR3179-2 ABCC1 FOPNL ABCC6 C16orf45 NDE1 PKD1P1 RPL7P47 RPL15P20 KIAA0430 NOMO3 MIR3180-2 MIR3670-2 More...
CNV_Williams[2010]_5 2p22.3 684866 Gain MIR558 TTC27 BIRC6 LINC00486 LTBP1 ...... MIR558 TTC27 BIRC6 LINC00486 LTBP1 MIR4765 More...
CNV_Williams[2010]_6 8q21.2-8q21.3 2935186 Loss Paternal
CNV_Williams[2010]_7 17q12 1278621 Gain Paternal C17orf78 HMGB1P24 DUSP14 SYNRG ACACA ...... C17orf78 HMGB1P24 DUSP14 SYNRG ACACA LHX1 PIGW GGNBP2 MRM1 TADA2A MYO19 DHRS11 DDX52 AATF MIR2909 HNF1B More...
CNV_Williams[2010]_8 17q12 1276993 Loss C17orf78 HMGB1P24 DUSP14 SYNRG ACACA ...... C17orf78 HMGB1P24 DUSP14 SYNRG ACACA LHX1 GGNBP2 MRM1 TADA2A DHRS11 DDX52 AATF MIR2909 HNF1B More...
CNV_Williams[2010]_9 3p26.2 922518 Gain Maternal EGOT SUMF1 ITPR1 BHLHE40-AS1 SETMAR ...... EGOT SUMF1 ITPR1 BHLHE40-AS1 SETMAR MRPS10P2 PNPT1P1 ITPR1-AS1 More...
CNV_Williams[2010]_10 3p26.3 1017195 Gain CNTN4-AS2 CNTN4 CNTN6 RPL21P17 RN7SKP144 ...... CNTN4-AS2 CNTN4 CNTN6 RPL21P17 RN7SKP144 RPL23AP39 More...
CNV_Williams[2010]_11 7q11.22 1843201 Gain RN7SKP75 RNA5SP232 WBSCR17 MIR3914-1 CALN1 ...... RN7SKP75 RNA5SP232 WBSCR17 MIR3914-1 CALN1 ABCF2P2 AUTS2 More...
CNV_Williams[2010]_12 2q23.3-2q24.1 766494 Gain Paternal GALNT13 RPRM DNAJA1P2 GALNT13 RPRM DNAJA1P2
CNV_Williams[2010]_13 15q13.3 566191 Gain OTUD7A CHRNA7 OTUD7A CHRNA7
CNV_Williams[2010]_14 3p26.3 552285 Gain CNTN6 RN7SL120P CNTN6 RN7SL120P
CNV_Williams[2010]_15 3p26.3-3p26.2 1538470 Loss SUMF1 CRBN CNTN4-AS1 CNTN4 IL5RA ...... SUMF1 CRBN CNTN4-AS1 CNTN4 IL5RA LRRN1 SETMAR MRPS10P2 PNPT1P1 DNAJC19P4 TRNT1 More...
CNV_Williams[2010]_16 16p11.2 803963 Loss ZG16 GDPD3 CORO1A PAGR1 TBX6 ...... ZG16 GDPD3 CORO1A PAGR1 TBX6 RN7SKP127 ASPHD1 BOLA2B KCTD13 MYLPF DCTPP1 SEPT1 QPRT DOC2A SULT1A3 YPEL3 ZNF771 C16orf92 SEZ6L2 C16orf54 ZNF48 CDIPT CDIPT-AS1 TAOK2 PRRT2 FAM57B KIF22 MAZ TMEM219 SEPHS2 INO80E SLX1A CD2BP2 HIRIP3 ALDOA MAPK3 MVP PPP4C SPN SLX1A-SULT1A3 TBC1D10B More...
CNV_Williams[2010]_17 1q23.3 701326 Loss NOS1AP FCGR2B FCGR3A HSPA7 FCRLB ...... NOS1AP FCGR2B FCGR3A HSPA7 FCRLB DUSP12 RPS23P9 FCGR2C MIR4654 RN7SL466P HSPA6 FCRLA FCGR3B FCGR2A RPS23P10 RPL31P11 OLFML2B ATF6 More...
CNV_Williams[2010]_18 4p15.2 3365040 Gain PI4K2B SLC34A2 ANAPC4 RN7SL16P SOD3 ...... PI4K2B SLC34A2 ANAPC4 RN7SL16P SOD3 RNU7-126P SEL1L3 LGI2 CCDC149 MTND3P5 CCKAR MIR573 SEPSECS TBC1D19 HNRNPA1P65 ATP5LP3 DHX15 ZCCHC4 MTND4P9 RBPJ STIM2 SMIM20 More...
CNV_Williams[2010]_19 3q26.31 1468793 Gain RN7SKP40 NLGN1 NLGN1-AS1 RN7SKP234 NAALADL2 RN7SKP40 NLGN1 NLGN1-AS1 RN7SKP234 NAALADL2
CNV_Williams[2010]_20 16p13.11 788434 Gain RPL17P40 MYH11 MIR484 RNU6-213P MPV17L ...... RPL17P40 MYH11 MIR484 RNU6-213P MPV17L ABCC1 FOPNL ABCC6 C16orf45 NDE1 RPL15P20 KIAA0430 More...
CNV_Williams[2010]_21 16p13.11-16p12.3 3006995 Gain RPL17P40 NPIPA5 MYH11 XYLT1 RN7SL90P ...... RPL17P40 NPIPA5 MYH11 XYLT1 RN7SL90P MIR484 RNU6-213P NPIPA7 MPV17L MIR3179-2 ABCC1 FOPNL ABCC6 C16orf45 MIR3180-4 NDE1 PKD1P1 RPL7P47 RPL15P20 KIAA0430 NOMO3 MIR3180-2 MIR3670-2 More...
CNV_Williams[2010]_22 15q13.3 593564 Gain OTUD7A CHRNA7 OTUD7A CHRNA7
CNV_Williams[2010]_23 16p13.11 797807 Gain RPL17P40 MYH11 MIR484 RNU6-213P MPV17L ...... RPL17P40 MYH11 MIR484 RNU6-213P MPV17L ABCC1 FOPNL ABCC6 C16orf45 NDE1 RPL15P20 KIAA0430 More...
CNV_Williams[2010]_24 13q21.31 503322 Loss NFYAP1 LINC00355 NFYAP1 LINC00355
CNV_Williams[2010]_25 20p12.1 1394171 Gain ISM1 RPS3P1 RN7SL864P RNU6-278P TASP1 ...... ISM1 RPS3P1 RN7SL864P RNU6-278P TASP1 GAPDHP2 SPTLC3 SEL1L2 ESF1 ISM1-AS1 MACROD2 AIMP1P1 NDUFAF5 More...
CNV_Williams[2010]_26 16p12.1 751397 Loss POLR3E VWA3A RRN3P3 RN7SL245P CDR2 ...... POLR3E VWA3A RRN3P3 RN7SL245P CDR2 EEF2K UQCRC2 SMG1P1 PDZD9 C16orf52 SDR42E2 NPIPB5 More...
CNV_Williams[2010]_27 4q13.1-4q13.2 675685 Gain RNU2-40P EPHA5 RNU2-40P EPHA5
CNV_Williams[2010]_28 1q44 876470 Loss Maternal OR2M3 OR2T33 RNU6-691P OR2W3 OR2AK2 ...... OR2M3 OR2T33 RNU6-691P OR2W3 OR2AK2 OR2G3 OR6R1P OR3D1P OR14A16 OR2L1P OR2C3 OR2L2 OR2M4 OR2L6P OR2L13 TRIM58 OR2L8 OR1C1 OR9H1P OR2M5 OR11L1 OR2L3 GCSAML-AS1 OR2L5 OR2G2 OR14K1 OR2X1P OR2AJ1 OR13G1 OR14A2 HSD17B7P1 OR2T32P OR2L9P OR2T8 OR2W5 OR2M2 OR2M1P OR6F1 GCSAML OR14L1P More...
CNV_Williams[2010]_29 11p15.4 1859865 Loss De novo OR10A2 DNHD1 OR52E6 TRIM5 GVINP2 ...... OR10A2 DNHD1 OR52E6 TRIM5 GVINP2 OR2D2 OR52U1P OLFML1 TRIM6-TRIM34 CNGA4 HPX OR52N2 GVINP1 OR56B1 OR52N3P TRIM3 OR56B2P OR56A1 SMPD1 ARFIP2 OR52E8 OR10A4 OR56A7P RNA5SP329 MRPL17 OR2AG2 FAM160A2 OR2AG1 RBMXL2 OR52N4 TAF10 OR52W1 OR52L2P OR2D3 ZNF215 TRIM34 NLRP14 MIR302E TRIM6 OR52X1P OR52P1P OR52B2 OR52N5 C11orf42 TRIM22 OR56A4 OR6A2 OR56B4 OR52N1 OR52B1P DCHS1 ZNF214 APBB1 KRT18P58 TPP1 CCKBR OR56A3 HBG2 OR52L1 OR52E7P ILK OR56B3P OR10A5 PRKCDBP OR52E4 TIMM10B RRP8 SYT9 More...
CNV_Williams[2010]_30 11p11.12 705145 Gain
CNV_Williams[2010]_31 4q13.1-4q13.2 1246268 Gain De novo RNU2-40P EPHA5 RNU2-40P EPHA5
CNV_Williams[2010]_32 4q22.1 763128 Loss De novo HERC5 RNU6-33P RNU6-818P HERC3 ABCG2 ...... HERC5 RNU6-33P RNU6-818P HERC3 ABCG2 PPM1K PYURF FAM13A RNU6ATAC31P GPRIN3 RN7SKP244 RNU6-1298P FAM13A-AS1 PIGY RNU6-112P TIGD2 HERC6 NAP1L5 RNU6-907P More...
CNV_Williams[2010]_33 4p15.2 1234728 Gain Paternal IGBP1P5 TBC1D19 STIM2 IGBP1P5 TBC1D19 STIM2
CNV_Williams[2010]_34 16p11.2 1813248 Loss De novo ZG16 SLX1B-SULT1A4 GDPD3 CORO1A C16orf98 ...... ZG16 SLX1B-SULT1A4 GDPD3 CORO1A C16orf98 SLC7A5P1 PAGR1 TBX6 PYCARD RN7SKP127 ASPHD1 BOLA2B FBXL19-AS1 KCTD13 MIR762 PHKG2 MYLPF HSD3B7 DCTPP1 SEPT1 QPRT DOC2A SULT1A3 YPEL3 ZNF771 RNF40 ZNF689 MIR4518 ZNF764 C16orf92 BOLA2 SEZ6L2 RNU6-1043P PRSS36 C16orf54 ZNF48 SULT1A4 CTF1 STX4 ZNF646 VKORC1 CDIPT CDIPT-AS1 TAOK2 SNORA30 C16orf93 ZNF668 BCL7C RNU7-61P PRSS8 PRRT2 PYDC1 ORAI3 ZNF747 ZNF768 FAM57B NDUFA3P6 PRSS53 FUS KIF22 SLX1B TRIM72 FBXL19 BCKDK KAT8 MAZ TMEM219 SNX29P2 MIR4519 SEPHS2 ZNF785 SRCAP INO80E SLX1A FBRS CTF2P PRR14 CD2BP2 STX1B HIRIP3 ALDOA MAPK3 ZNF688 ITGAL MVP PPP4C MIR3680-2 SPN SETD1A RNU6-416P SLX1A-SULT1A3 MIR3680-1 ZNF629 CA5AP1 TBC1D10B More...
CNV_Williams[2010]_35 20p13 803887 Loss De novo PANK2 AP5S1 SIGLEC1 CENPB ATRN ...... PANK2 AP5S1 SIGLEC1 CENPB ATRN MAVS DDRGK1 C20orf27 C20orf194 ADAM33 SF3A3P1 CDC25B GFRA4 RNU6-1019P FASTKD5 ITPA SPEF1 HSPA12B SLC4A11 UBOX5 UBE2V1P1 RN7SL839P UBOX5-AS1 More...
CNV_Williams[2010]_36 8p12 1048699 Gain RN7SL457P VENTXP5 RN7SL457P VENTXP5
CNV_Williams[2010]_37 22q11.23 1306306 Gain GUCD1 FAM211B SUSD2 GGT1 SMARCB1 ...... GUCD1 FAM211B SUSD2 GGT1 SMARCB1 ADORA2A GSTT2B SNRPD3 GUSBP11 ASLP1 UPB1 GSTT2 RN7SL268P MMP11 BCRP1 ZNF70 EIF4EBP1P2 SPECC1L SLC2A11 GGT5 IGLL1 POM121L9P ADORA2A-AS1 CHCHD10 CABIN1 SPECC1L-ADORA2A GSTT1 ZDHHC8P1 MTND1P13 CES5AP1 C22orf15 RGL4 GSTTP1 MIF GSTTP2 DDTL C22orf43 DDT DERL3 VPREB3 More...
CNV_Williams[2010]_38 3q26.1 1574775 Loss SPTSSB NMD3 PSMC1P7 TOMM22P6 EEF1GP4 ...... SPTSSB NMD3 PSMC1P7 TOMM22P6 EEF1GP4 OTOL1 More...
CNV_Williams[2010]_39 16p11.2 1813247 Gain ZG16 SLX1B-SULT1A4 GDPD3 CORO1A C16orf98 ...... ZG16 SLX1B-SULT1A4 GDPD3 CORO1A C16orf98 SLC7A5P1 PAGR1 TBX6 PYCARD RN7SKP127 ASPHD1 BOLA2B FBXL19-AS1 KCTD13 MIR762 PHKG2 MYLPF HSD3B7 DCTPP1 SEPT1 QPRT DOC2A SULT1A3 YPEL3 ZNF771 RNF40 ZNF689 MIR4518 ZNF764 C16orf92 BOLA2 SEZ6L2 RNU6-1043P PRSS36 C16orf54 ZNF48 SULT1A4 CTF1 STX4 ZNF646 VKORC1 CDIPT CDIPT-AS1 TAOK2 SNORA30 C16orf93 ZNF668 BCL7C RNU7-61P PRSS8 PRRT2 PYDC1 ORAI3 ZNF747 ZNF768 FAM57B NDUFA3P6 PRSS53 FUS KIF22 SLX1B TRIM72 FBXL19 BCKDK KAT8 MAZ TMEM219 SNX29P2 MIR4519 SEPHS2 ZNF785 SRCAP INO80E SLX1A FBRS CTF2P PRR14 CD2BP2 STX1B HIRIP3 ALDOA MAPK3 ZNF688 ITGAL MVP PPP4C MIR3680-2 SPN SETD1A RNU6-416P SLX1A-SULT1A3 MIR3680-1 ZNF629 CA5AP1 TBC1D10B More...
CNV_Williams[2010]_40 11q25 880460 Gain ACAD8 THYN1 NCAPD3 GLB1L2 GLB1L3 ...... ACAD8 THYN1 NCAPD3 GLB1L2 GLB1L3 B3GAT1 VPS26B More...
CNV_Williams[2010]_41 11q13.2 1167044 Gain GAL MRGPRD MYEOV MRGPRF MIR3164 ...... GAL MRGPRD MYEOV MRGPRF MIR3164 CPT1A IGHMBP2 PPP6R3 MTL5 IFITM9P TPCN2 LRP5 NDUFA3P2 MRPL21 More...
CNV_Williams[2010]_42 16p13.11 809654 Gain RPL17P40 MYH11 MIR484 RNU6-213P MPV17L ...... RPL17P40 MYH11 MIR484 RNU6-213P MPV17L ABCC1 FOPNL ABCC6 C16orf45 NDE1 RPL15P20 KIAA0430 More...
CNV_Williams[2010]_43 4q13.3-4q21.1 1076977 Gain Paternal PARM1 RNU2-16P C4orf26 CDKL2 THAP6 ...... PARM1 RNU2-16P C4orf26 CDKL2 THAP6 BTC USO1 PPEF2 G3BP2 RCHY1 NAAA More...
CNV_Williams[2010]_44 15q13.3-15q14 1871368 Gain Maternal GREM1 HNRNPA1P71 ARHGAP11A PGBD4 CHRM5 ...... GREM1 HNRNPA1P71 ARHGAP11A PGBD4 CHRM5 AVEN SLC12A6 RYR3 EMC7 KATNBL1 TMCO5B GOLGA8A SCG5 MIR1233-1 NUTM1 LPCAT4 HNRNPLP2 NOP10 EMC4 FMN1 More...
CNV_Williams[2010]_45 1q43 1739833 Gain CHRM3 MTND6P15 ZP4 MTND5P18 KRT18P32 ...... CHRM3 MTND6P15 ZP4 MTND5P18 KRT18P32 YWHAQP9 MTRNR2L11 MIPEPP2 RNU6-725P RYR2 More...
CNV_Williams[2010]_46 15q11.2-15q13.1 4933636 Gain SNORD115-14 SNORD109A SNORD116-8 SNORD115-11 SNORD115-38 ...... SNORD115-14 SNORD109A SNORD116-8 SNORD115-11 SNORD115-38 NPAP1 SNORD116-20 SNORD115-45 SNORD115-28 SNORD115-48 PWRN2 SNORD115-21 SNORD115-15 SNORD115-6 SNORD116-15 SNORD116-3 SNORD115-3 SNORD109B SNORD116-11 MIR4715 SNORD115-17 SNORD116-21 SNORD116-24 SNORD115-30 MAGEL2 NDN SNORD115-4 SNORD115-18 SNORD116-5 UBE3A SNORD116-10 SNORD116-9 RNA5SP390 ATP10A SNORD115-9 PWAR6 GABRA5 SNORD115-2 SNORD115-42 SNORD116-6 SNHG14 SNORD115-23 PWRN4 SNORD115-10 SNORD115-8 SNORD115-24 SNORD116-1 SNORD116-16 SNORD115-19 SNORD116-7 RPL5P1 MIR4508 SNORD115-29 SNORD108 SPATA31E3P PWRN1 GOLGA8S SNRPN MKRN3 SNORD115-22 SNORD115-41 SNORD116-2 SNORD115-5 SNORD116-12 GABRB3 SNORD115-32 SNORD116-19 SNORD116-17 SNORD115-35 SNORD115-16 SNORD116-25 SNORD115-31 GOLGA6L2 RN7SL536P SNORD115-40 SNURF SNORD116-18 SNORD115-37 SNORD64 SNORD116-30 SNORD116-23 SNORD116-26 TVP23BP1 SNORD115-44 RPL5P32 SNORD115-20 SNORD115-43 SNORD116-14 SNORD115-12 SNORD115-1 TMEM261P1 PWRN3 SNORD115-47 LINC00929 SNORD116-29 SNORD115-34 SNORD115-25 SNORD116-27 SNORD115-27 SNORD115-36 RNU6-741P OCA2 GABRG3 SNORD115-33 SNORD116-13 RNA5SP391 SNORD115-39 More...
CNV_Williams[2010]_47 15q13.1-15q13.2 1140363 Gain TUBBP8 NDNL2 FAM189A1 HMGN2P5 APBA2 ...... TUBBP8 NDNL2 FAM189A1 HMGN2P5 APBA2 TJP1 More...
CNV_Williams[2010]_48 4q32.2 631873 Loss RPS14P7 RPS14P7
CNV_Williams[2010]_49 6q22.33-6q23.1 1646633 Gain TMEM244 SAMD3 LAMA2 MESTP1 L3MBTL3 ...... TMEM244 SAMD3 LAMA2 MESTP1 L3MBTL3 ARHGAP18 PTPRK EEF1DP5 RNU6-861P RPL5P21 BMPR1APS1 More...
CNV_Williams[2010]_50 3q29 741671 Gain RN7SL215P HES1 LINC00887 RN7SL447P OPA1 ...... RN7SL215P HES1 LINC00887 RN7SL447P OPA1 ATP13A4 OPA1-AS1 DPPA2P3 More...
CNV_Williams[2010]_51 15q13.1-15q13.2 1153301 Gain TUBBP8 NDNL2 FAM189A1 HMGN2P5 APBA2 ...... TUBBP8 NDNL2 FAM189A1 HMGN2P5 APBA2 TJP1 More...
CNV_Williams[2010]_52 15q13.3 512271 Gain OTUD7A CHRNA7 OTUD7A CHRNA7
CNV_Williams[2010]_53 16p13.11 809654 Gain De novo RPL17P40 MYH11 MIR484 RNU6-213P MPV17L ...... RPL17P40 MYH11 MIR484 RNU6-213P MPV17L ABCC1 FOPNL ABCC6 C16orf45 NDE1 RPL15P20 KIAA0430 More...
CNV_Williams[2010]_54 8q21.3 1139681 Gain Maternal MMP16 RNA5SP272 MMP16 RNA5SP272
CNV_Williams[2010]_55 3p26.3 561301 Gain CNTN6 RN7SL120P CNTN6 RN7SL120P
CNV_Williams[2010]_56 14q21.1 578113 Loss
CNV_Williams[2010]_57 2q11.2 684637 Gain HMGN2P22 RN7SL360P CHST10 NANOGNBP1 PDCL3 ...... HMGN2P22 RN7SL360P CHST10 NANOGNBP1 PDCL3 LONRF2 NMS NPAS2 RN7SL611P 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%) MIR592 GRM8 MIR592 GRM8
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%) SGTB SGTB
CNV_Elia[2012]_8 1p32.3 10999 Del 1:0:3(25%)
CNV_Elia[2012]_9 19q13.11 17115 Del 2:2:1(80%)
CNV_Elia[2012]_10 3p26.3 15722 Del 2:4:0(100%)
CNV_Elia[2012]_11 2p12 26786 Dup 1:0:1(50%)
CNV_Elia[2012]_12 4q25 16245 Dup 0:0:0(NA) C4orf21 LARP7 MIR302B MIR367 C4orf21 LARP7 MIR302B MIR367
CNV_Elia[2012]_13 19p13.12 5245 Del LINC00661 LINC00661
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 STAC3 SHMT2 NXPH4 NDUFA4L2 STAC3 SHMT2 NXPH4
CNV_Elia[2012]_17 19q13.42 4642 Dup LILRA6 RPS9 LILRB3 LILRA6 RPS9 LILRB3
CNV_Elia[2012]_18 16q24.3 83789 Del LINC00304 ACSF3 CDH15 LINC00304 ACSF3 CDH15
CNV_Elia[2012]_19 18q22.2 8788 Del DOK6 DOK6
CNV_Jarick[2012]_1 1p13.3 578639 dup SCARNA2 C1orf194 STXBP3 RNU7-122P CLCC1 ...... SCARNA2 C1orf194 STXBP3 RNU7-122P CLCC1 RANP5 PSRC1 TMEM167B WDR47 KIAA1324 SORT1 AKNAD1 SARS MYBPHL GPSM2 CELSR2 SPATA42 TAF13 More...
CNV_Jarick[2012]_2 1q21.1 1350133 del LINC00624