Cohort ID

Author, Year

Descripton

Cohort Size

Diagnosis

Age

Gender

CNV Size

Deletion

Duplication

Total CNV's

Cohort ID

Geographical Ancestry

Discovery Method

Platform

Algorithm

Software

Validation Method

Patient ID

Author, Year

Age

Gender

Primary Diagnosis

Clinical Profile

Cognitive Profile

CNV Start

CNV End

CNV Size

Genome Build

Type Method

Validation

Patient ID

Validation Description

Primary Disorder Inheritence

Inheritence

Family Profile

Disease Segregation

Gene Content

Altered Gene Expression

 szatmari_07_ASD_discovery_cases-NAAR003-A5-8047-202

 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors

 

 Unknown

 NA

 NA

 TBC1D3E,RNA5SP526,EPOP,MIR4734,MIR4726,RNA5SP440,PSMB3,RNU6-866P,MIR4727,C17orf98,RPL23,SNORA21B,SNORA21,MIR6779,LINC02079,RPL19,RNU6-233P,NEUROD2,PNMT,MIR4728,MIEN1,GRB7,KRT8P34,ZPBP2,ORMDL3,CSF3,MIR6884,SNORD124,NR1D1,MIR6866,MIR6867,RARA-AS1,GJD3,PPIAP54,RNA5SP441,RPL23AP75,CCR7,KRT24,KRT223P,KRT25,KRT26,KRT10,KRT40,KRTAP3-3,KRTAP3-2,KRTAP3-4P,KRTAP1-5,KRTAP1-4,KRTAP1-3,KRTAP1-1,KRTAP2-1,KRTAP2-2,KRTAP2-3,KRTAP2-4,KRTAP2-5P,KRTAP4-7,KRTAP4-8,KRTAP4-16,KRTAP4-9,KRTAP4-11,KRTAP4-5,KRTAP4-4,KRTAP4-3,KRTAP4-2,KRTAP4-1,KRTAP4-17P,KRTAP9-1,KRTAP9-12P,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-9,KRTAP9-6,KRTAP9-11P,KRTAP9-7,KRTAP9-10P,KRTAP29-1,KRTAP16-1,KRTAP17-1,TBC1D3P7,KRT33A,KRT34,KRT31,KRT41P,KRT37,KRT38,KRT32,RNU2-32P,KRT35,KRT36,KRT13,MIR6510,KRT19,KRT17,EIF1,RNA5SP442,RN7SL399P,FKBP10,KAT2A,HCRT,RNU7-97P,MIR548AT,MIR5010,PTP4A2P1,NAGLU,HSD17B1P1,MLX,PSMC3IP,ATP5MGP7,HMGB3P27,PLEKHH3,MIR6780A,HMGN2P15,RAMP2-AS1,COA3,MIR6781,AOC2,AOC3,AOC4P,RNU6-287P,RPL27,RND2,RPL21P4,TMEM106A,RNU2-1,RNU2-4P,RNU6-1137P,ARL4D,RNU6-470P,MIR2117,RNU6-406P,RNU6-971P,SOST,CFAP97D1,FAM215A,LINC01976,RNU6-131P,ASB16-AS1,ATXN7L3,MIR6782,SHC1P2,RN7SL507P,RNU6-453P,RUNDC3A,SLC25A39,FAM171A2,RPL7L1P5,RN7SL258P,FZD2,SMCO4P1,RN7SL819P,HIGD1B,RN7SL405P,CCDC103,FAM187A,MIR6783,C1QL1,MIR6784,HEXIM1,HEXIM2,SPATA32,RNA5SP443,MIR4315-1,RDM1P1,DND1P1,MAPK8IP1P2,RPS26P8,SPPL2C,MAPT-IT1,STH,KANSL1-AS1,MAPK8IP1P1,RN7SL656P,RDM1P2,RN7SL199P,FAM215B,RPS7P11,LINC01974,RNU6ATAC3P,MIR5089,RPRML,RN7SL270P,RNU7-186P,LRRC46,SP6,PNPO,MIR152,RNU6-1201P,MIR1203,RNU6-1152P,HOXB2,HOXB-AS2,MIR10A,HOXB5,HOXB6,HOXB8,HOXB9,HOXB-AS4,MIR196A1,RPL9P28,COX6B1P2,PRAC1,PRAC2,MIR3185,RN7SL125P,ATP5MC1,RNU1-42P,GIP,RNU6-826P,GNGT2,PHOSPHO1,MIR6129,EIF4EP2,LINC02075,MIR6165,SLC35B1,SRP14P3,FLJ45513,RNU6-1313P,DLX3,HILS1,SUMO2P7,TMEM92,MRPL27,MRPS21P9,CHAD,EPN3,ANKRD40,ANKRD40CL,MIR8059,RPL5P33,TOB1,NME1,RPL7P48,MTCO1P40,RPS2P48,KIF2B,ISCA1P3,ARL2BPP8,RN7SKP14,GARSP1,RNU6-1249P,RPL39P33,NOG,RNU6-1158P,MIR3614,RNF126P1,RN7SL449P,RNU7-134P,CCDC182,RN7SKP94,SRSF1,DYNLL2,OR4D1,MSX2P1,OR4D2,MIR142,MIR4736,SUPT4H1,SETP3,C17orf47,RNU1-108P,RNU1-52P,RNU1-85P,RNU6-518P,RN7SL716P,RNU2-58P,MIR454,MIR301A,SNRPGP17,MIR4729,RNU4-13P,MIR21,RNU6-450P,NDUFB8P2,RPS29P21,RNFT1,MIR4737,WFDC21P,SCARNA20,RPL12P38,RPSAP66,RNU6-623P,RN7SL606P,KRT18P61,HMGN1P28,RN7SL448P,RPL23AP74,C17orf82,NACA2,RN7SL800P,POLRMTP1,RNU7-52P,RPS23P7,RNU6-446P,PRELID3BP3,MIR633,TRMT112P3,ACE3P,RNU6-288P,EEF1DP7,FTSJ3,PSMC5,SMARCD2,TCAM1P,CSH2,CSH1,GH1,PRR29-AS1,PRR29,SNHG25,SNORD104,SNORA50C,RPL31P57,ATP5MFP4,MIR3064,MIR5047,KPNA2P3,BPTFP1,MIR6080,MIR4315-2,RNU7-115P,RN7SL404P,RDM1P4,SLC16A6P1,AMZ2P1,LINC02563,PSMD7P1,RNA5SP444,RN7SL735P,RNU6-928P,RNA5SP445,MIR634,RNA5SP446,CACNG1,RPL36AP48,RNA5SP447,RN7SL756P,MIR548D2,MIR548AA2,SNORA38B,RPSAP67,RPL17P41,RN7SL622P,FBXO36P1,SH3GL1P3,ARHGAP27P2,MIR635,SEC24AP1,MIR4524B,MIR4524A,PRO1804,SNRPGP4,KCNJ2-AS1,CALM2P1,RNU7-155P,MYL6P5,RPL32P33,RN7SKP180,POLR3KP2,RPL38,MGC16275,BTBD17,GPR142,RNA5SP448,CD300C,C17orf77,MIR3615,NAT9,FDXR,USH1G,OTOP2,MRPL58,RNU6-362P,ATP5PD,RN7SL573P,TRIM80P,NT5C,MRPS7,MIR3678,RNU6-938P,MIR6785,TSEN54,SMIM5,SMIM6,H3F3B,MIR4738,WBP2,MRPL38,ZACN,GALR2,MIR6868,ATP5MGP6,ATF4P3,RNU6-24P,RPL7P49,SNORD1C,SNORD1B,SNORD1A,RNU6-227P,RNY4P36,METTL23,SRSF2,MIR636,RNU6-97P,LINC02080,SCARNA16,MIR6516,RNU4-47P,CYCSP40,MIR4316,LINC01973,RNU1-80P,UBE2V2P2,RNU6-625P,TNRC6C-AS1,EIF5AP2,SYNGR2,SOCS3,RN7SL236P,RN7SL454P,RNU6-638P,RPL9P29,LGALS3BP,MIR4739,CBX2,CBX8,LINC01977,MIR1268B,EIF4A3,MIR4730,NPTX1,RPL32P31,RPL31P7,TBC1D3C,TBC1D3,MRPL45,GPR179,ARHGAP23,MLLT6,CISD3,PCGF2,CWC25,LASP1,FBXO47,LRRC37A11P,PLXDC1,ARL5C,STAC2,MED1,CDK12,PPP1R1B,STARD3,TCAP,PGAP3,GSDMB,LRRC3C,PSMD3,MED24,THRA,MSL1,CASC3,RAPGEFL1,CDC6,RARA,TOP2A,IGFBP4,KRT222,KRT27,KRT28,TMEM99,KRT12,KRT20,KRT23,KRT39,KRTAP3-1,KRTAP4-12,KRTAP4-6,KRTAP9-8,KRT33B,KRT43P,KRT15,KRT9,KRT14,KRT16,KRT42P,GAST,HAP1,JUP,NT5C3B,KLHL10,KLHL11,ACLY,CNP,DNAJC7,NKIRAS2,C17orf113,DHX58,HSPB9,RAB5C,KCNH4,GHDC,STAT5A,CAVIN1,HSD17B1,COASY,TUBG1,TUBG2,CCR10,CNTNAP1,RAMP2,VPS25,WNK4,CNTD1,BECN1,PSME3,LINC00671,G6PC,PTGES3L-AARSD1,AARSD1,PTGES3L,IFI35,VAT1,NBR2,NBR1,MIR2117HG,ETV4,LINC02594,MPP3,CD300LG,PPY,PYY,NAGS,TMEM101,G6PC3,HDAC5,C17orf53,TMUB2,UBTF,SLC4A1,GRN,ITGA2B,LINC01180,MEIOC,CCDC43,DBF4B,ADAM11,EFTUD2,GFAP,KIF18B,DCAKD,PLCD3,ACBD4,FMNL1,MAP3K14-AS1,MAP3K14,ARHGAP27,LRRC37A4P,LINC02210,CRHR1,ARL17B,LRRC37A,WNT9B,LRRC37A17P,MYL4,ITGB3,EFCAB13,MRPL45P2,KPNB1,TBX21,OSBPL7,MRPL10,SP2,SP2-AS1,PRR15L,COPZ2,NFE2L1,CBX1,SKAP1-AS1,THRA1/BTR,HOXB1,HOXB-AS1,HOXB3,HOXB-AS3,HOXB4,LINC02086,HOXB13,TTLL6,CALCOCO2,UBE2Z,SNF8,B4GALNT2P1,ABI3,FLJ40194,ZNF652,NGFR,NXPH3,FAM117A,TAC4,DLX4,PICART1,PDK2,SAMD14,PPP1R9B,SGCA,TMEM92-AS1,XYLT2,EME1,LRRC59,RSAD1,MYCBPAP,SPATA20,CACNA1G-AS1,ABCC3,WFIKKN2,TOB1-AS1,NME1-NME2,NME2,UTP18,LINC02071,LINC02089,C17orf112,COX11,MMD,SMIM36,TMEM100,C17orf67,DGKE,COIL,SCPEP1,AKAP1,MRPS23,VEZF1,MKS1,LPO,MPO,RNF43,MTMR4,SEPT4-AS1,SEPT4,TRIM37,PRR11,SPDYE22P,SMG8,DHX40,PTRH2,TUBD1,TBC1D3P1-DHX40P1,RNFT1-DT,DHX40P1,TBC1D3P1,HEATR6,APPBP2,LINC01999,PPM1D,TBX2-AS1,TBX2,TBC1D3P2,METTL2A,PPIAP55,ACE,KCNH6,TACO1,MAP3K3,CCDC47,DDX42,GH2,CSHL1,CD79B,ICAM2,MILR1,DDX5,CEP95,ARHGAP27P1-BPTFP1-KPNA2P3,PLEKHM1P1,APOH,PRKCA-AS1,PSMD12,NOL11,C17orf58,KPNA2,LINC00674,LRRC37A16P,AMZ2,WIPI1,ABCA9-AS1,ABCA9,ABCA6,ABCA5,LINC01028,KCNJ2,ROCR,LINC01152,SOX9,SSTR2,COG1,FAM104A,C17orf80,CPSF4L,CDC42EP4,TTYH2,DNAI2,KIF19,CD300A,CD300LB,CD300H,CD300E,SLC9A3R1,TMEM104,FADS6,OTOP3,HID1,CDR2L,KCTD2,ARMC7,JPT1,SUMO2,GGA3,MIF4GD,SLC25A19,CASKIN2,LLGL2,MYO15B,SAP30BP,ITGB4,UNK,UNC13D,TRIM47,FBF1,ACOX1,TEN1,TEN1-CDK3,CDK3,SRP68,EXOC7,FOXJ1,UBALD2,PRPSAP1,SPHK1,AANAT,RHBDF2,SNHG16,ST6GALNAC2,ST6GALNAC1,JMJD6,MFSD11,LINC00868,SNHG20,TMC8,C17orf99,TK1,AFMID,BIRC5,TMEM235,LINC01993,DNAH17-AS1,USP36,CEP295NL,CANT1,C1QTNF1-AS1,ENGASE,LINC02078,ENPP7,CBX4,LINC01979,LINC01978,GAA,CARD14,SLC26A11,ENDOV,SOCS7,SRCIN1,LINC00672,RDM1P5,CACNB1,FBXL20,ERBB2,GSDMA,WIPF2,TNS4,SMARCE1,LINC00974,P3H4,ZNF385C,STAT5B,STAT3,ATP6V0A1,RETREG3,EZH1,BRCA1,CCDC200,LINC00910,DHX8,MEOX1,DUSP3,MPP2,ASB16,RUNDC3A-AS1,GPATCH8,GJC1,PLEKHM1,LINC02210-CRHR1,MAPT-AS1,MAPT,NSFP1,LRRC37A2,ARL17A,NSF,WNT3,GOSR2,THCAT158,NPEPPS,TBKBP1,SCRN2,CDK5RAP3,SNX11,HOXB7,SUMO2P17,IGF2BP1,B4GALNT2,PHB,SPOP,KAT7,ITGA3,COL1A1,ACSF2,CACNA1G,LUC7L3,SPAG9,MBTD1,CA10,TOM1L1,STXBP4,HLF,PCTP,ANKFN1,TRIM25,CUEDC1,EPX,TSPOAP1,TSPOAP1-AS1,HSF5,TEX14,PPM1E,SKA2,GDPD1,YPEL2,LINC01476,CLTC,RPS6KB1,CA4,USP32,C17orf64,TBX4,BRIP1,MED13,EFCAB3,TLK2,MRC2,MARCH10,TANC2,CYB561,DCAF7,STRADA,LIMD2,ERN1,TEX2,PECAM1,POLG2,SMURF2,LRRC37A3,RGS9,AXIN2,PRKCA,CACNG5,CACNG4,PITPNC1,BPTF,ARSG,SLC16A6,PRKAR1A,FAM20A,LINC01482,ABCA8,MAP2K6,LINC01483,LINC01497,KCNJ16,CASC17,SOX9-AS1,LINC02097,SLC39A11,LINC00469,LINC02092,LINC02074,CD300LD,RAB37,CD300LF,GRIN2C,HID1-AS1,SLC16A5,NUP85,GRB2,RECQL5,GALK1,TRIM65,EVPL,RNF157-AS1,RNF157,QRICH2,UBE2O,MXRA7,MGAT5B,SEC14L1,SEPT9,LINC01987,TNRC6C,TMC6,THA1P,PGS1,DNAH17,CYTH1,TIMP2,C1QTNF1,RBFOX3,TBC1D16,CCDC40,SGSH,RNF213,PIP4K2B,IKZF3,RUNDC1,LSM12,NMT1,KANSL1,CDC27,SKAP1,LINC02073,LINC01982,MSI2,VMP1,BCAS3,INTS2,SCN4A,GNA13,CEP112,RDM1P3,ABCA10,LINC00511,LINC02003,SDK2,GPRC5C,CYGB,PRCD,RPTOR,TTC25,RAD51C,TMEM94,HELZ