A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528399



Internal ID15455692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:120313235..120323893hg38UCSC Ensembl
Innerchr2:121070811..121081469hg19UCSC Ensembl
Innerchr2:120787281..120797939hg18UCSC Ensembl
Innerchr2:120787041..120797699hg17UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3810659
hg1910659
hg1810659
hg1710659
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704989
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528399
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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