A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587999



Internal ID16028722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46522003..46683939hg38UCSC Ensembl
Innerchr21:47941916..48103851hg19UCSC Ensembl
Innerchr21:46766344..46928279hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38161937
hg19161936
hg18161936
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv949411
Samples
Known GenesDIP2A, PRMT2, S100B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587999
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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