A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527319



Internal ID15454612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:230628101..230636752hg38UCSC Ensembl
Innerchr2:231492816..231501467hg19UCSC Ensembl
Innerchr2:231201060..231209711hg18UCSC Ensembl
Innerchr2:231318321..231326972hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg388652
hg198652
hg188652
hg178652
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703744
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527319
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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