A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587696



Internal ID16028419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43551005..43555248hg38UCSC Ensembl
Innerchr21:44970886..44975129hg19UCSC Ensembl
Innerchr21:43795314..43799557hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg384244
hg194244
hg184244
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv947966, nssv947967
Samples
Known GenesHSF2BP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587696
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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