A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1027493



Internal ID16321449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:23056728..23263637hg38UCSC Ensembl
Innerchr5:23056837..23263746hg19UCSC Ensembl
Innerchr5:23092594..23299503hg18UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38206910
hg19206910
hg18206910
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv597537
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1027493
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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