16p12.1-q11.2CNV Type: Deletion
Largest CNV size: 18494864 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
No Major Reports
Minor Reports
Title
Author, Year
Report Class
CNV Type
Microduplications of 16p11.2 are associated with schizophrenia.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
mccarthy_09_ASD_discovery_cases
ASD patients from AGRE (692), Columbia Univ. (32), Inst. Child Health (28), NIMHAU (49), North Shore Univ. .Hospital (10), Trinity College Dublin (60), and Vanderbilt Univ. (63)
934
ASD
18494864
1
0
1
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
mccarthy_09_ASD_discovery_cases-JS-6059-900
Unknown
NA
NA
EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,CD2BP2,SEPHS2,RNU7-61P,MIR4518,ZNF768,ZNF747,ZNF785,FBRS,RNU6-416P,RNU6-1043P,SNORA30,TMEM265,CCDC189,MIR4519,MIR762,CTF2P,FBXL19-AS1,HSD3B7,STX4,PRSS53,VKORC1,BCKDK,PRSS8,NDUFA3P6,FUS,PYCARD,PYCARD-AS1,PYDC1,COX6A2,ARMC5,AHSP,VN1R64P,LINC02190,VN1R65P,FRG2KP,YBX3P1,ZNF720P1,VN1R66P,RBM22P12,VN1R67P,VN1R3,RBM22P13,IGHV1OR16-1,IGHV1OR16-3,IGHV3OR16-9,ABHD17AP8,TP53TG3D,ACTR3BP3,ABCD1P3,TP53TG3,ABHD17AP7,IGHV2OR16-5,BCAP31P2,IGHV3OR16-15,IGHV1OR16-2,IGHV3OR16-10,IGHV1OR16-4,IGHV3OR16-8,ABHD17AP9,TP53TG3E,TP53TG3B,TP53TG3F,ENPP7P13,IGHV3OR16-12,IGHV3OR16-13,IGHV3OR16-11,IGHV3OR16-7,IGHV3OR16-16,BCAP31P1,DUX4L45,PCMTD1P2,DUX4L46,DUX4L47,LINC00273,RNA5-8SP2,BCLAF1P2,NAMPTP3,VN1R68P,VN1R69P,UBE2MP1,SLC25A1P4,TP53TG3GP,RARRES2P5,FGFR3P5,FRG2JP,RARRES2P6,AGGF1P8,FRG2HP,RARRES2P9,AGGF1P9,C2orf69P4,FRG2GP,RARRES2P7,AGGF1P5,C2orf69P3,ZNF971P,FRG2DP,RARRES2P10,AGGF1P6,C2orf69P2,TP53TG3HP,RARRES2P8,AGGF1P7,C1QL1P1,KIF18BP1,RNA5SP406,RNA5SP407,RNA5SP408,RNA5SP409,RNA5SP410,RNA5SP411,RNA5SP412,RNA5SP413,RNA5SP414,RNA5SP415,RNA5SP416,RNA5SP417,RNA5SP418,RNA5SP419,RNA5SP420,RNA5SP421,RNA5SP422,RNA5SP423,HMGN2P41,VN1R70P,PPP1R1AP2,RNU6-845P,RAB43P1,CKBP1,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,TBC1D10B,MYLPF,ZNF48,SEPT1,DCTPP1,ITGAL,ZNF764,ZNF688,ZNF689,PRR14,SRCAP,PHKG2,RNF40,ZNF629,BCL7C,MIR762HG,CTF1,ORAI3,SETD1A,STX1B,ZNF646,KAT8,PRSS36,TRIM72,ITGAX,ITGAD,ZNF843,TGFB1I1,SLC5A2,C16orf58,CLUHP3,ZNF267,PABPC1P13,SLC6A10P,IGHV3OR16-6,HERC2P8,TP53TG3C,BMS1P8,ARHGAP23P1,LINC02184,CCNYL3,CLUHP11,VPS35P1,FRG2IP,C2orf69P1,LINC02167,SHCBP1,ORC6,MYLK3,C16orf87,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,NPIPB12,CA5AP1,SEZ6L2,DOC2A,SMG1P5,FBXL19,ZNF668,ITGAM,ZNF720,HERC2P4,HERC2P5,LINC01566,AGGF1P4,ANKRD26P1,VPS35,GPT2,NSMCE1,SBK1,SNX29P2,ZNF771
Controls
No Control Data Available
No Animal Model Data Available