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13q12.11-q34CNV Type: Duplication


Largest CNV size: 95654893 bp

Statistics Box:
Number of Reports: 2



Summary Information

Mosaic duplication identified in a case with developmental delay/intellectual disability (Girirajan et al., 2012)

Additional Locus Information

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USCS Symbol             NCBI Symbol

Decipher

References

Major Reports

Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
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
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 95669883
 0
 3
 3
 girirajan_12_ASD/DD/ID_discovery_cases
 Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
 32587
 Developmental delay with or without congenital malformations
 
 
 95654893
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 girirajan_12_ASD/DD/ID_discovery_controls
 Persons found to have no overt neurological disorders during screening for other studies
 8329
 Control
 
 
 95654893
 NA
 NA
 NA

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K or 105K
 
 Feature Extraction & DNA Analytics
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 girirajan_12_ASD/DD/ID_discovery_cases
 
 aCGH
  BACs ACGH (SignatureChipoWG; n=9207) or oligoarray (SignatureChipOS; n=23,380)
 
 
 FISH, aCGH, or confirmation by inheritance

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K or 105K
 
  Feature Extraction & DNA Analytics
 
  girirajan_12_ASD/DD/ID_discovery_controls
 
  aCGH
  BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
 
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002049
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18418322
 114088205
  95669883
 NCBI36
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003768
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 19309535
 114110750
  94801215
 NCBI36
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005084
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 19309535
 114110750
  94801215
 NCBI36
 Duplication
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case38091
 NA
 NA
 Developmental delay
 NA
 NA
 18454945
 114109838
  95654893
 hg18
 Duplication (mosaic)
 Yes

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002049
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TUBA3C,TPTE2,MPHOSPH8,PSPC1,ZMYM5,ZMYM2,GJA3,GJB2,GJB6,CRYL1,IFT88,IL17D,N6AMT2,XPO4,LATS2,SAP18,SKA3,MRP63,ZDHHC20,EFHA1,FGF9,SGCG,SACS,TNFRSF19,MIPEP,C1QTNF9B-AS1,C1QTNF9B,SPATA13,C1QTNF9,PARP4,ATP12A,RNF17,CENPJ,PABPC3,FAM123A,MTMR6,NUPL1,ATP8A2,SHISA2,RNF6,CDK8,WASF3,GPR12,USP12,RPL21,RASL11A,GTF3A,MTIF3,LNX2,POLR1D,GSX1,PDX1,CDX2,PRHOXNB,FLT3,PAN3,FLT1,POMP,SLC46A3,MTUS2,SLC7A1,UBL3,KATNAL1,HMGB1,USPL1,ALOX5AP,MEDAG,TEX26,HSPH1,B3GALTL,RXFP2,FRY,ZAR1L,BRCA2,N4BP2L1,N4BP2L2,PDS5B,KL,STARD13,RFC3,NBEA,MAB21L1,DCLK1,SOHLH2,CCDC169-SOHLH2,CCDC169,SPG20,CCNA1,SERTM1,RFXAP,SMAD9,ALG5,EXOSC8,FAM48A,CSNK1A1L,POSTN,TRPC4,UFM1,FREM2,STOML3,PROSER1,NHLRC3,LHFP,COG6,FOXO1,MRPS31,SLC25A15,ELF1,WBP4,KBTBD6,KBTBD7,MTRF1,NAA16,RGCC,VWA8,DGKH,AKAP11,TNFSF11,FAM216B,EPSTI1,DNAJC15,ENOX1,CCDC122,LACC1,SERP2,TSC22D1,NUFIP1,KIAA1704,GTF2F2,KCTD4,TPT1,SLC25A30,COG3,FAM194B,SPERT,SIAH3,ZC3H13,CPB2,LCP1,KIAA0226L,LRCH1,ESD,HTR2A,SUCLA2,NUDT15,MED4,ITM2B,RB1,LPAR6,RCBTB2,CYSLTR2,FNDC3A,MLNR,CDADC1,CAB39L,SETDB2,PHF11,RCBTB1,ARL11,EBPL,KPNA3,SPRYD7,TRIM13,KCNRG,DLEU7,RNASEH2B,FAM124A,SERPINE3,INTS6,WDFY2,DHRS12,CCDC70,ATP7B,ALG11,UTP14C,NEK5,NEK3,THSD1,VPS36,CKAP2,HNRNPA1L2,SUGT1,LECT1,PCDH8,OLFM4,PRR20A,PRR20B,PRR20E,PRR20D,PRR20C,PCDH17,DIAPH3,TDRD3,PCDH20,PCDH9,KLHL1,DACH1,MZT1,BORA,DIS3,PIBF1,KLF5,KLF12,TBC1D4,COMMD6,UCHL3,LMO7,C13orf45,KCTD12,IRG1,CLN5,FBXL3,MYCBP2,SCEL,SLAIN1,EDNRB,POU4F1,RNF219,RBM26,NDFIP2,SPRY2,SLITRK1,SLITRK6,SLITRK5,GPC5,GPC6,DCT,TGDS,GPR180,SOX21,ABCC4,CLDN10,DZIP1,DNAJC3,UGGT2,HS6ST3,OXGR1,MBNL2,RAP2A,IPO5,FARP1,RNF113B,STK24,SLC15A1,DOCK9,UBAC2,GPR18,GPR183,TM9SF2,CLYBL,ZIC5,ZIC2,PCCA,GGACT,TMTC4,NALCN,ITGBL1,FGF14,TPP2,METTL21C,CCDC168,TEX30,KDELC1,BIVM,BIVM-ERCC5,ERCC5,SLC10A2,DAOA,EFNB2,ARGLU1,FAM155A,LIG4,ABHD13,TNFSF13B,MYO16,IRS2,COL4A1,COL4A2,RAB20,CARKD,CARS2,ING1,ANKRD10,ARHGEF7,TEX29,SOX1,SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,GAS6,FAM70B,RASA3,CDC16,UPF3A
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003768
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 ZMYM5,ZMYM2,GJA3,GJB2,GJB6,CRYL1,IFT88,IL17D,N6AMT2,XPO4,LATS2,SAP18,SKA3,MRP63,ZDHHC20,EFHA1,FGF9,SGCG,SACS,TNFRSF19,MIPEP,C1QTNF9B-AS1,C1QTNF9B,SPATA13,C1QTNF9,PARP4,ATP12A,RNF17,CENPJ,PABPC3,FAM123A,MTMR6,NUPL1,ATP8A2,SHISA2,RNF6,CDK8,WASF3,GPR12,USP12,RPL21,RASL11A,GTF3A,MTIF3,LNX2,POLR1D,GSX1,PDX1,CDX2,PRHOXNB,FLT3,PAN3,FLT1,POMP,SLC46A3,MTUS2,SLC7A1,UBL3,KATNAL1,HMGB1,USPL1,ALOX5AP,MEDAG,TEX26,HSPH1,B3GALTL,RXFP2,FRY,ZAR1L,BRCA2,N4BP2L1,N4BP2L2,PDS5B,KL,STARD13,RFC3,NBEA,MAB21L1,DCLK1,SOHLH2,CCDC169-SOHLH2,CCDC169,SPG20,CCNA1,SERTM1,RFXAP,SMAD9,ALG5,EXOSC8,FAM48A,CSNK1A1L,POSTN,TRPC4,UFM1,FREM2,STOML3,PROSER1,NHLRC3,LHFP,COG6,FOXO1,MRPS31,SLC25A15,ELF1,WBP4,KBTBD6,KBTBD7,MTRF1,NAA16,RGCC,VWA8,DGKH,AKAP11,TNFSF11,FAM216B,EPSTI1,DNAJC15,ENOX1,CCDC122,LACC1,SERP2,TSC22D1,NUFIP1,KIAA1704,GTF2F2,KCTD4,TPT1,SLC25A30,COG3,FAM194B,SPERT,SIAH3,ZC3H13,CPB2,LCP1,KIAA0226L,LRCH1,ESD,HTR2A,SUCLA2,NUDT15,MED4,ITM2B,RB1,LPAR6,RCBTB2,CYSLTR2,FNDC3A,MLNR,CDADC1,CAB39L,SETDB2,PHF11,RCBTB1,ARL11,EBPL,KPNA3,SPRYD7,TRIM13,KCNRG,DLEU7,RNASEH2B,FAM124A,SERPINE3,INTS6,WDFY2,DHRS12,CCDC70,ATP7B,ALG11,UTP14C,NEK5,NEK3,THSD1,VPS36,CKAP2,HNRNPA1L2,SUGT1,LECT1,PCDH8,OLFM4,PRR20A,PRR20B,PRR20E,PRR20D,PRR20C,PCDH17,DIAPH3,TDRD3,PCDH20,PCDH9,KLHL1,DACH1,MZT1,BORA,DIS3,PIBF1,KLF5,KLF12,TBC1D4,COMMD6,UCHL3,LMO7,C13orf45,KCTD12,IRG1,CLN5,FBXL3,MYCBP2,SCEL,SLAIN1,EDNRB,POU4F1,RNF219,RBM26,NDFIP2,SPRY2,SLITRK1,SLITRK6,SLITRK5,GPC5,GPC6,DCT,TGDS,GPR180,SOX21,ABCC4,CLDN10,DZIP1,DNAJC3,UGGT2,HS6ST3,OXGR1,MBNL2,RAP2A,IPO5,FARP1,RNF113B,STK24,SLC15A1,DOCK9,UBAC2,GPR18,GPR183,TM9SF2,CLYBL,ZIC5,ZIC2,PCCA,GGACT,TMTC4,NALCN,ITGBL1,FGF14,TPP2,METTL21C,CCDC168,TEX30,KDELC1,BIVM,BIVM-ERCC5,ERCC5,SLC10A2,DAOA,EFNB2,ARGLU1,FAM155A,LIG4,ABHD13,TNFSF13B,MYO16,IRS2,COL4A1,COL4A2,RAB20,CARKD,CARS2,ING1,ANKRD10,ARHGEF7,TEX29,SOX1,SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,GAS6,FAM70B,RASA3,CDC16,UPF3A,CHAMP1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005084
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 ZMYM5,ZMYM2,GJA3,GJB2,GJB6,CRYL1,IFT88,IL17D,N6AMT2,XPO4,LATS2,SAP18,SKA3,MRP63,ZDHHC20,EFHA1,FGF9,SGCG,SACS,TNFRSF19,MIPEP,C1QTNF9B-AS1,C1QTNF9B,SPATA13,C1QTNF9,PARP4,ATP12A,RNF17,CENPJ,PABPC3,FAM123A,MTMR6,NUPL1,ATP8A2,SHISA2,RNF6,CDK8,WASF3,GPR12,USP12,RPL21,RASL11A,GTF3A,MTIF3,LNX2,POLR1D,GSX1,PDX1,CDX2,PRHOXNB,FLT3,PAN3,FLT1,POMP,SLC46A3,MTUS2,SLC7A1,UBL3,KATNAL1,HMGB1,USPL1,ALOX5AP,MEDAG,TEX26,HSPH1,B3GALTL,RXFP2,FRY,ZAR1L,BRCA2,N4BP2L1,N4BP2L2,PDS5B,KL,STARD13,RFC3,NBEA,MAB21L1,DCLK1,SOHLH2,CCDC169-SOHLH2,CCDC169,SPG20,CCNA1,SERTM1,RFXAP,SMAD9,ALG5,EXOSC8,FAM48A,CSNK1A1L,POSTN,TRPC4,UFM1,FREM2,STOML3,PROSER1,NHLRC3,LHFP,COG6,FOXO1,MRPS31,SLC25A15,ELF1,WBP4,KBTBD6,KBTBD7,MTRF1,NAA16,RGCC,VWA8,DGKH,AKAP11,TNFSF11,FAM216B,EPSTI1,DNAJC15,ENOX1,CCDC122,LACC1,SERP2,TSC22D1,NUFIP1,KIAA1704,GTF2F2,KCTD4,TPT1,SLC25A30,COG3,FAM194B,SPERT,SIAH3,ZC3H13,CPB2,LCP1,KIAA0226L,LRCH1,ESD,HTR2A,SUCLA2,NUDT15,MED4,ITM2B,RB1,LPAR6,RCBTB2,CYSLTR2,FNDC3A,MLNR,CDADC1,CAB39L,SETDB2,PHF11,RCBTB1,ARL11,EBPL,KPNA3,SPRYD7,TRIM13,KCNRG,DLEU7,RNASEH2B,FAM124A,SERPINE3,INTS6,WDFY2,DHRS12,CCDC70,ATP7B,ALG11,UTP14C,NEK5,NEK3,THSD1,VPS36,CKAP2,HNRNPA1L2,SUGT1,LECT1,PCDH8,OLFM4,PRR20A,PRR20B,PRR20E,PRR20D,PRR20C,PCDH17,DIAPH3,TDRD3,PCDH20,PCDH9,KLHL1,DACH1,MZT1,BORA,DIS3,PIBF1,KLF5,KLF12,TBC1D4,COMMD6,UCHL3,LMO7,C13orf45,KCTD12,IRG1,CLN5,FBXL3,MYCBP2,SCEL,SLAIN1,EDNRB,POU4F1,RNF219,RBM26,NDFIP2,SPRY2,SLITRK1,SLITRK6,SLITRK5,GPC5,GPC6,DCT,TGDS,GPR180,SOX21,ABCC4,CLDN10,DZIP1,DNAJC3,UGGT2,HS6ST3,OXGR1,MBNL2,RAP2A,IPO5,FARP1,RNF113B,STK24,SLC15A1,DOCK9,UBAC2,GPR18,GPR183,TM9SF2,CLYBL,ZIC5,ZIC2,PCCA,GGACT,TMTC4,NALCN,ITGBL1,FGF14,TPP2,METTL21C,CCDC168,TEX30,KDELC1,BIVM,BIVM-ERCC5,ERCC5,SLC10A2,DAOA,EFNB2,ARGLU1,FAM155A,LIG4,ABHD13,TNFSF13B,MYO16,IRS2,COL4A1,COL4A2,RAB20,CARKD,CARS2,ING1,ANKRD10,ARHGEF7,TEX29,SOX1,SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,GAS6,FAM70B,RASA3,CDC16,UPF3A,CHAMP1
 
 girirajan_12_ASD/DD/ID_discovery_cases-case38091
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Unknown
 Unknown
 TUBA3C,TPTE2,MPHOSPH8,PSPC1,ZMYM5,ZMYM2,GJA3,GJB2,GJB6,CRYL1,IFT88,IL17D,N6AMT2,XPO4,LATS2,SAP18,SKA3,MRP63,ZDHHC20,EFHA1,FGF9,SGCG,SACS,TNFRSF19,MIPEP,C1QTNF9B-AS1,C1QTNF9B,SPATA13,C1QTNF9,PARP4,ATP12A,RNF17,CENPJ,PABPC3,FAM123A,MTMR6,NUPL1,ATP8A2,SHISA2,RNF6,CDK8,WASF3,GPR12,USP12,RPL21,RASL11A,GTF3A,MTIF3,LNX2,POLR1D,GSX1,PDX1,CDX2,PRHOXNB,FLT3,PAN3,FLT1,POMP,SLC46A3,MTUS2,SLC7A1,UBL3,KATNAL1,HMGB1,USPL1,ALOX5AP,MEDAG,TEX26,HSPH1,B3GALTL,RXFP2,FRY,ZAR1L,BRCA2,N4BP2L1,N4BP2L2,PDS5B,KL,STARD13,RFC3,NBEA,MAB21L1,DCLK1,SOHLH2,CCDC169-SOHLH2,CCDC169,SPG20,CCNA1,SERTM1,RFXAP,SMAD9,ALG5,EXOSC8,FAM48A,CSNK1A1L,POSTN,TRPC4,UFM1,FREM2,STOML3,PROSER1,NHLRC3,LHFP,COG6,FOXO1,MRPS31,SLC25A15,ELF1,WBP4,KBTBD6,KBTBD7,MTRF1,NAA16,RGCC,VWA8,DGKH,AKAP11,TNFSF11,FAM216B,EPSTI1,DNAJC15,ENOX1,CCDC122,LACC1,SERP2,TSC22D1,NUFIP1,KIAA1704,GTF2F2,KCTD4,TPT1,SLC25A30,COG3,FAM194B,SPERT,SIAH3,ZC3H13,CPB2,LCP1,KIAA0226L,LRCH1,ESD,HTR2A,SUCLA2,NUDT15,MED4,ITM2B,RB1,LPAR6,RCBTB2,CYSLTR2,FNDC3A,MLNR,CDADC1,CAB39L,SETDB2,PHF11,RCBTB1,ARL11,EBPL,KPNA3,SPRYD7,TRIM13,KCNRG,DLEU7,RNASEH2B,FAM124A,SERPINE3,INTS6,WDFY2,DHRS12,CCDC70,ATP7B,ALG11,UTP14C,NEK5,NEK3,THSD1,VPS36,CKAP2,HNRNPA1L2,SUGT1,LECT1,PCDH8,OLFM4,PRR20A,PRR20B,PRR20E,PRR20D,PRR20C,PCDH17,DIAPH3,TDRD3,PCDH20,PCDH9,KLHL1,DACH1,MZT1,BORA,DIS3,PIBF1,KLF5,KLF12,TBC1D4,COMMD6,UCHL3,LMO7,C13orf45,KCTD12,IRG1,CLN5,FBXL3,MYCBP2,SCEL,SLAIN1,EDNRB,POU4F1,RNF219,RBM26,NDFIP2,SPRY2,SLITRK1,SLITRK6,SLITRK5,GPC5,GPC6,DCT,TGDS,GPR180,SOX21,ABCC4,CLDN10,DZIP1,DNAJC3,UGGT2,HS6ST3,OXGR1,MBNL2,RAP2A,IPO5,FARP1,RNF113B,STK24,SLC15A1,DOCK9,UBAC2,GPR18,GPR183,TM9SF2,CLYBL,ZIC5,ZIC2,PCCA,GGACT,TMTC4,NALCN,ITGBL1,FGF14,TPP2,METTL21C,CCDC168,TEX30,KDELC1,BIVM,BIVM-ERCC5,ERCC5,SLC10A2,DAOA,EFNB2,ARGLU1,FAM155A,LIG4,ABHD13,TNFSF13B,MYO16,IRS2,COL4A1,COL4A2,RAB20,CARKD,CARS2,ING1,ANKRD10,ARHGEF7,TEX29,SOX1,SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,GAS6,FAM70B,RASA3,CDC16,UPF3A,CHAMP1
 

Controls

No Control Data Available
No Animal Model Data Available
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