A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519311



Internal ID15099918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4149272..4162929hg38UCSC Ensembl
Innerchr17:4052566..4066223hg19UCSC Ensembl
Innerchr17:3999315..4012972hg18UCSC Ensembl
Innerchr17:3999315..4012972hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3813658
hg1913658
hg1813658
hg1713658
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696785
Samples
Known GenesCYB5D2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519311
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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