A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3677639



Internal ID18629234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7172456..7477475hg38UCSC Ensembl
Innerchr8:7029978..7334997hg19UCSC Ensembl
Innerchr8:7017388..7322407hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38305020
hg19305020
hg18305020
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1033908
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB109P1B, DEFB4B, FAM66B, LINC00965, SPAG11B, USP17L1P, USP17L4, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3677639
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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