A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519834



Internal ID15447127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46052727..46083397hg38UCSC Ensembl
Innerchr21:47472641..47503311hg19UCSC Ensembl
Innerchr21:46297069..46327739hg18UCSC Ensembl
Innerchr21:46297069..46327739hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3830671
hg1930671
hg1830671
hg1730671
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703983, nssv658979, nssv678758
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519834
Frequency
Sample Size2026
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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