A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587721



Internal ID16028444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43996032..44135197hg38UCSC Ensembl
Innerchr21:45415913..45555079hg19UCSC Ensembl
Innerchr21:44240341..44379507hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38139166
hg19139167
hg18139167
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv948047
Samples
Known GenesC21orf33, PWP2, TRAPPC10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587721
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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