A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526175



Internal ID15106782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:3528392..3616421hg38UCSC Ensembl
Innerchr17:3431686..3519715hg19UCSC Ensembl
Innerchr17:3378436..3466464hg18UCSC Ensembl
Innerchr17:3378436..3466464hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3888030
hg1988030
hg1888029
hg1788029
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv702436
Samples
Known GenesSHPK, TRPV1, TRPV3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv526175
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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