A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv682729



Internal ID15072695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:3601921..3652130hg38UCSC Ensembl
Innerchr17:3505215..3555424hg19UCSC Ensembl
Innerchr17:3451964..3502173hg18UCSC Ensembl
Innerchr17:3451964..3502173hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3850210
hg1950210
hg1850210
hg1750210
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516676
Supporting Variants
Samples
Known GenesCTNS, SHPK, TRPV1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv682729
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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