A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697550



Internal ID15087516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:12389639..12733151hg38UCSC Ensembl
Innerchr5:12389751..12733263hg19UCSC Ensembl
Innerchr5:12442751..12786263hg18UCSC Ensembl
Innerchr5:12442751..12786263hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38343513
hg19343513
hg18343513
hg17343513
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520673
Supporting Variants
Samples
Known GenesCT49
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697550
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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