A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3583916



Internal ID18882197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:193418136..194048117hg38UCSC Ensembl
Innerchr2:194282861..194912841hg19UCSC Ensembl
Innerchr2:193991106..194621086hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38629982
hg19629981
hg18629981
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1011454
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)nssv3583916
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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