A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3679641



Internal ID18631236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7396757..7930199hg38UCSC Ensembl
Innerchr8:7254279..7787721hg19UCSC Ensembl
Innerchr8:7241689..7825131hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38533443
hg19533443
hg18583443
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1029299
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, 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)nssv3679641
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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