A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv947406



Internal ID15894676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43165295..43178717hg38UCSC Ensembl
Innerchr21:44585405..44598827hg19UCSC Ensembl
Innerchr21:43458474..43471896hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3813423
hg1913423
hg1813423
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587664
Supporting Variants
Samples
Known GenesCRYAA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv947406
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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