A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3677487



Internal ID18975768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7137583..7433510hg38UCSC Ensembl
Innerchr8:6995105..7291032hg19UCSC Ensembl
Innerchr8:6982515..7278442hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38295928
hg19295928
hg18295928
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1017706
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB109P1B, DEFB4B, FAM66B, LINC00965, 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)nssv3677487
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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