A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522112



Internal ID15449405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:24450660..24471232hg38UCSC Ensembl
Innerchr21:25822974..25843546hg19UCSC Ensembl
Innerchr21:24744845..24765417hg18UCSC Ensembl
Innerchr21:24744845..24765417hg17UCSC Ensembl
Cytoband21q21.2
Allele length
AssemblyAllele length
hg3820573
hg1920573
hg1820573
hg1720573
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694884
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522112
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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