A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587689



Internal ID16028412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43464372..43566169hg38UCSC Ensembl
Innerchr21:44884252..44986050hg19UCSC Ensembl
Innerchr21:43708680..43810478hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38101798
hg19101799
hg18101799
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv947440
Samples
Known GenesHSF2BP, LINC00313
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587689
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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