A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3685265



Internal ID18983546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39378072..39499344hg38UCSC Ensembl
Innerchr8:39235591..39356863hg19UCSC Ensembl
Innerchr8:39354748..39476020hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38121273
hg19121273
hg18121273
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1019366
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)nssv3685265
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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