A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598398



Internal ID16385807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:65925509..65926462hg38UCSC Ensembl
Innerchr5:65221337..65222290hg19UCSC Ensembl
Innerchr5:65257093..65258046hg18UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38954
hg19954
hg18954
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9827n54
Supporting Variantsnssv1034597, nssv1034596
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598398
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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