A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518990



Internal ID15099597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:102074850..102094571hg38UCSC Ensembl
Innerchr2:102691310..102711031hg19UCSC Ensembl
Innerchr2:102057742..102077463hg18UCSC Ensembl
Innerchr2:102149828..102169549hg17UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3819722
hg1919722
hg1819722
hg1719722
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696457
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518990
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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