A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3684627



Internal ID18636222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39378072..39517627hg38UCSC Ensembl
Innerchr8:39235591..39375146hg19UCSC Ensembl
Innerchr8:39354748..39494303hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38139556
hg19139556
hg18139556
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1029546
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)nssv3684627
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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