A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv948018



Internal ID15895288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43708573..43771258hg38UCSC Ensembl
Innerchr21:45128454..45191139hg19UCSC Ensembl
Innerchr21:43952882..44015567hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3862686
hg1962686
hg1862686
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587702
Supporting Variants
Samples
Known GenesPDXK
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv948018
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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