A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519317



Internal ID15446610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:47083787..47093148hg38UCSC Ensembl
Innerchr13:47657922..47667283hg19UCSC Ensembl
Innerchr13:46555923..46565284hg18UCSC Ensembl
Innerchr13:46555923..46565284hg17UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg389362
hg199362
hg189362
hg179362
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv655360, nssv698775, nssv697341, nssv685725
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519317
Frequency
Sample Size2026
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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