A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700197



Internal ID15436849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:3890009..3935332hg38UCSC Ensembl
Innerchr17:3793303..3838626hg19UCSC Ensembl
Innerchr17:3740052..3785375hg18UCSC Ensembl
Innerchr17:3740052..3785375hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3845324
hg1945324
hg1845324
hg1745324
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524296
Supporting Variants
Samples
Known GenesATP2A3, CAMKK1, P2RX1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700197
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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