A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703784



Internal ID15093750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46258860..46443112hg38UCSC Ensembl
Innerchr21:47678774..47863025hg19UCSC Ensembl
Innerchr21:46503202..46687453hg18UCSC Ensembl
Innerchr21:46503202..46687453hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38184253
hg19184252
hg18184252
hg17184252
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527355
Supporting Variants
Samples
Known GenesC21orf58, MCM3AP, PCNT, YBEY
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv703784
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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