19p13.3-p13.11CNV Type: Duplication
Largest CNV size: 12790310 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
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
No Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
szatmari_07_ASD_discovery_cases
ASD patients from 173 families with at least two affected individuals from AGP
196
Patients diagnosed with ASD based on ADI-R and ADOS
12790310
0
1
1
Controls
No Control Data Available
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
szatmari_07_ASD_discovery_cases-NAAR030-D12-3198.002
NA
ASD
NA
NA
3591592
16361089
12769498
GRCh38
Duplication
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
szatmari_07_ASD_discovery_cases-NAAR030-D12-3198.002
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
CACTIN-AS1,RAX2,FTLP5,RN7SL202P,NMRK2,MIR637,SNORD37,EBI3,SHD,EIF1P6,MIR4746,PLIN5,MIR7-3HG,MIR7-3,MIR4747,RPL32P34,SNRPEP4,DUS3L,NRTN,FUT5,VMAC,CLPP,PSPN,MIR6885,MIR6790,MIR3940,SLC25A41,CRB3,TUBB4A,TNFSF9,CLIC4P2,RPL7P50,MIR6791,FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,MCOLN1,MIR6792,XAB2,PET100,PCP2,STXBP2,RPS27AP19,RETN,MCEMP1,CD209,RPL21P129,CLEC4GP1,EXOSC3P2,PRR36,LYPLA2P2,RNA5SP463,TGFBR3L,SNAPC2,CTXN1,NDUFA7,MIR4999,RAB11B,PRAM1,ZNF414,ACTL9,OR2Z1,RPL23AP78,MBD3L1,BOLA3P2,OR1M4P,OR7G2,OR7G1,OR7G15P,OR7G3,OR7D2,ELOCP29,OR7D4,OR7D1P,OR7E24,OR7E18P,OR7E19P,OR7H1P,ZNF426-DT,RPS4XP22,UBE2L4,RPL10P15,UBL5,RDH8,MIR5589,SNORD105,SNORD105B,P2RY11,EIF3G,MIR4322,ICAM4,ICAM5,FDX2,MIR1181,S1PR5,RNU7-140P,MIR1238,KRI1,ILF3-DT,QTRT1,MIR638,MIR4748,MIR199A1,MIR6793,TMED1,TIMM29,RN7SL192P,MIR6886,TMEM205,PLPPR2,SWSAP1,EPOR,CCDC151,MIR7974,RN7SL833P,CNN1,ELOF1,ACP5,GAPDHP76,HNRNPA1P10,ZNF491,RNA5SP464,RNA5SP465,ZNF878,RNA5SP466,RSL24D1P8,RNA5SP467,ZNF625,RPS29P23,ZNF799,MTND2P40,MTCO1P27,MTCO2P27,MTATP6P27,PPIAP20,PGK1P2,RPL10P16,WDR83,WDR83OS,GNG14,FBXW9,SNORD41,TRIR,BEST2,MIR5684,JUNB,PRDX2,MIR6794,KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,MRI1,C19orf53,RN7SL619P,MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,EEF1DP1,MIR1199,C19orf67,RN7SL231P,PTGER1,SNRPGP15,MIR639,NDUFB7,RN7SL337P,RN7SL842P,OR7A8P,OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,ZNF861P,LINC01764,UCA1,CYP4F36P,OR10H4,SNX33P1,OR1AB1P,LINC01855,KLF2,GIPC3,TBXA2R,CACTIN,TJP3,APBA3,MRPL54,ZFR2,ATCAY,DAPK3,EEF2,PIAS4,MAP2K2,CREB3L3,SIRT6,YJU2,TMIGD2,FSD1,MPND,SH3GL1,CHAF1A,HDGFL2,PLIN4,LRG1,SEMA6B,TNFAIP8L1,MYDGF,DPP9-AS1,FEM1A,TICAM1,ARRDC5,UHRF1,ZNRF4,TINCR,SAFB2,RPL36,HSD11B1L,LONP1,PRR22,FUT6,FUT3,CAPS,RANBP3,MLLT1,ACER1,ALKBH7,GTF2F1,SLC25A23,DENND1C,CD70,TNFSF14,GPR108,TRIP10,SH2D3A,ADGRE1,ADGRE4P,PEX11G,TEX45,ZNF358,PNPLA6,TRAPPC5,FCER2,CLEC4M,LRRC8E,MAP2K7,TIMM44,CCL25,CD320,RPS28,KANK3,ANGPTL4,MARCH2,HNRNPM,MYO1F,ADAMTS10,LINC01862,ZNF558,OR1M1,ZNF317,OR7E16P,OR7E25P,ZNF559,ZNF559-ZNF177,ZNF177,ZNF266,ZNF560,ZNF426,ZNF561,ZNF561-AS1,ZNF562,ZNF846,FBXL12,PIN1,OLFM2,C3P1,PPAN-P2RY11,PPAN,MRPL4,ICAM1,ZGLP1,RAVER1,ICAM3,CDC37,PDE4A,KEAP1,ATG4D,CDKN2D,AP1M2,ILF3,C19orf38,YIPF2,LDLR,KANK2,DOCK6,ANGPTL8,TSPAN16,RAB3D,CCDC159,PRKCSH,ELAVL3,ZNF653,ECSIT,ZNF627,ZNF887P,ZNF833P,ZNF823,ZNF441,ZNF440,ZNF439,ZNF69,ZNF763,ZNF433-AS1,ZNF433,ZNF844,ZNF788P,ZNF20,ZNF625-ZNF20,ZNF44,ZNF442,ZNF443,ZNF709,ZNF564,ZNF791,MAN2B1,DHPS,ASNA1,THSD8,RNASEH2A,RTBDN,DNASE2,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,PALM3,MISP3,SAMD1,PRKACA,ASF1B,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,CLEC17A,ZNF333,ADGRE2,OR7A5,OR7A10,OR7A1P,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,OR10H5,OR10H1,CYP4F2,CYP4F11,LINC00661,LINC00905,TPM4,HSH2D,CIB3,FAM32A,AP1M1,PIP5K1C,MATK,ZBTB7A,STAP2,UBXN6,DPP9,PLIN3,KDM4B,SAFB,CATSPERD,NDUFA11,RFX2,ACSBG2,KHSRP,C3,VAV1,ZNF557,INSR,ARHGEF18,CAMSAP3,CLEC4G,EVI5L,ELAVL1,FBN3,CERS4,MUC16,ZNF699,ZNF121,ZNF812P,COL5A3,C19orf66,ANGPTL6,DNMT1,S1PR2,TYK2,SLC44A2,DNM2,CARM1,SMARCA4,SPC24,RGL3,ZNF700,ZNF136,ZNF563,TNPO2,HOOK2,MAST1,TRMT1,CCDC130,C19orf57,ADGRL1,DDX39A,TECR,OR7C1,OR7C2,LINC01835,CYP4F9P,RAB8A,EPS15L1,ANKRD24,PTPRS,ZNF490,CACNA1A,ADGRE3,OR10H2,RAB11B-AS1
Controls
No Control Data Available
No Animal Model Data Available