A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3685794



Internal ID18984075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39393441..39539496hg38UCSC Ensembl
Innerchr8:39250960..39397015hg19UCSC Ensembl
Innerchr8:39370117..39516172hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38146056
hg19146056
hg18146056
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1031274
Supporting Variants
Samples
Known GenesADAM3A, ADAM5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3685794
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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