A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516676



Internal ID15097283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:3553441..3652130hg38UCSC Ensembl
Innerchr17:3456735..3555424hg19UCSC Ensembl
Innerchr17:3403485..3502173hg18UCSC Ensembl
Innerchr17:3403485..3502173hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3898690
hg1998690
hg1898689
hg1798689
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv663645, nssv685266, nssv662273, nssv697356, nssv684146, nssv682729, nssv670098
Samples
Known GenesCTNS, SHPK, TRPV1, TRPV3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516676
Frequency
Sample Size2026
Observed Gain2
Observed Loss5
Observed Complex0
Frequencyn/a


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