A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3685633



Internal ID18983914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39372652..39499344hg38UCSC Ensembl
Innerchr8:39230171..39356863hg19UCSC Ensembl
Innerchr8:39349328..39476020hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38126693
hg19126693
hg18126693
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1020419
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)nssv3685633
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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