A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599713



Internal ID16040436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:132408085..132468815hg38UCSC Ensembl
Innerchr5:131743777..131804507hg19UCSC Ensembl
Innerchr5:131771676..131832406hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3860731
hg1960731
hg1860731
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1154001
SamplesHGDP01187
Known GenesC5orf56
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599713
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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