A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694112



Internal ID15430764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:125713477..125756807hg38UCSC Ensembl
Innerchr5:125049170..125092500hg19UCSC Ensembl
Innerchr5:125077069..125120399hg18UCSC Ensembl
Innerchr5:125077069..125120399hg17UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3843331
hg1943331
hg1843331
hg1743331
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521940
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694112
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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