A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv947444



Internal ID15894714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43550456..43553303hg38UCSC Ensembl
Innerchr21:44970337..44973184hg19UCSC Ensembl
Innerchr21:43794765..43797612hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382848
hg192848
hg182848
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587692
Supporting Variants
Samples
Known GenesHSF2BP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv947444
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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