A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3680493



Internal ID18632088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7477539..7930334hg38UCSC Ensembl
Innerchr8:7335061..7787856hg19UCSC Ensembl
Innerchr8:7322471..7825266hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38452796
hg19452796
hg18502796
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1031021
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3680493
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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