A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587700



Internal ID16028423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43588075..43675319hg38UCSC Ensembl
Innerchr21:45007956..45095200hg19UCSC Ensembl
Innerchr21:43832384..43919628hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3887245
hg1987245
hg1887245
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv948016
Samples
Known GenesHSF2BP, MIR6070, RRP1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587700
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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