A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518050



Internal ID15098657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:17902583..18208949hg38UCSC Ensembl
Innerchr2:18083850..18390215hg19UCSC Ensembl
Innerchr2:17947331..18253696hg18UCSC Ensembl
Innerchr2:18005478..18311843hg17UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg38306367
hg19306366
hg18306366
hg17306366
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695461
Samples
Known GenesKCNS3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518050
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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