A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700739



Internal ID15437391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:120769153..120883645hg38UCSC Ensembl
Innerchr5:120104848..120219340hg19UCSC Ensembl
Innerchr5:120132747..120247239hg18UCSC Ensembl
Innerchr5:120132747..120247239hg17UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38114493
hg19114493
hg18114493
hg17114493
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524748
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700739
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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