A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696287



Internal ID15086253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:13817716..13828347hg38UCSC Ensembl
Innerchr5:13817825..13828456hg19UCSC Ensembl
Innerchr5:13870825..13881456hg18UCSC Ensembl
Innerchr5:13870825..13881456hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3810632
hg1910632
hg1810632
hg1710632
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516415
Supporting Variants
Samples
Known GenesDNAH5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696287
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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