A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597313



Internal ID16038036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17296233..17483929hg38UCSC Ensembl
Innerchr5:17296342..17484038hg19UCSC Ensembl
Innerchr5:17349342..17537038hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38187697
hg19187697
hg18187697
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1026292
Samples
Known GenesLOC401177
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597313
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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