A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv698967



Internal ID15088933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7511473..8240557hg38UCSC Ensembl
Innerchr8:7368995..8098079hg19UCSC Ensembl
Innerchr8:7356405..8135489hg18UCSC Ensembl
Innerchr8:7356405..8135489hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38729085
hg19729085
hg18779085
hg17779085
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515968
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, FAM66E, FAM86B3P, FAM90A10P, FAM90A7P, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L3, USP17L8, ZNF705B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv698967
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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