A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598177



Internal ID16385586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:54037647..54459378hg38UCSC Ensembl
Innerchr5:53333477..53755208hg19UCSC Ensembl
Innerchr5:53369234..53790965hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38421732
hg19421732
hg18421732
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9786n54
Supporting Variantsnssv1030363
Samples
Known GenesARL15, HSPB3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598177
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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