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19p13.3-p13.11CNV Type: Duplication


Largest CNV size: 12790310 bp

Statistics Box:
Number of Reports: 1



Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

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

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 szatmari_07_ASD_discovery_cases
 
 Array SNP
  Affymetrix 10K (v2)
 HMM
 dChip
 Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors

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
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