A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598176



Internal ID16385585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:54015672..54443700hg38UCSC Ensembl
Innerchr5:53311502..53739530hg19UCSC Ensembl
Innerchr5:53347259..53775287hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38428029
hg19428029
hg18428029
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9786n54
Supporting Variantsnssv1030362
Samples
Known GenesARL15
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598176
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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