A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3647981



Internal ID18946262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:120134110..120176151hg38UCSC Ensembl
Innerchr5:119469805..119511846hg19UCSC Ensembl
Innerchr5:119497704..119539745hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3842042
hg1942042
hg1842042
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1018247
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3647981
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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