A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv947352



Internal ID15894622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:42278986..42286991hg38UCSC Ensembl
Innerchr21:43699096..43707101hg19UCSC Ensembl
Innerchr21:42572165..42580170hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg388006
hg198006
hg188006
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587628
Supporting Variants
Samples
Known GenesABCG1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv947352
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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