A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519410



Internal ID15100017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:161772459..161784215hg38UCSC Ensembl
Innerchr2:162628969..162640725hg19UCSC Ensembl
Innerchr2:162337215..162348971hg18UCSC Ensembl
Innerchr2:162454476..162466232hg17UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3811757
hg1911757
hg1811757
hg1711757
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696838
Samples
Known GenesSLC4A10
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519410
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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