A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517834



Internal ID15098441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:3904738..3976854hg38UCSC Ensembl
Innerchr17:3808032..3880148hg19UCSC Ensembl
Innerchr17:3754781..3826897hg18UCSC Ensembl
Innerchr17:3754781..3826897hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3872117
hg1972117
hg1872117
hg1772117
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695238
Samples
Known GenesATP2A3, P2RX1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517834
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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