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13q12.11-q21.1CNV Type: N/A


Largest CNV size: 37820576 bp

Statistics Box:
Number of Reports: 1



Summary Information

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

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
NA

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
 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
 
 
 37820576
 NA
 NA
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 girirajan_12_ASD/DD/ID_discovery_controls
 Persons found to have no overt neurological disorders during screening for other studies
 8329
 Control
 
 
 37820576
 NA
 NA
 NA

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 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
  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
  girirajan_12_ASD/DD/ID_discovery_cases-case46609
 NA
 M
 Developmental delay
 NA
 NA
 18448674
 56269250
  37820576
 hg18
 NA
 Yes

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 girirajan_12_ASD/DD/ID_discovery_cases-case46609
 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
 

Controls

No Control Data Available
No Animal Model Data Available
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