A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv949370



Internal ID16243326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46382747..46383975hg38UCSC Ensembl
Innerchr21:47802662..47803890hg19UCSC Ensembl
Innerchr21:46627090..46628318hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381229
hg191229
hg181229
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587985
Supporting Variants
Samples
Known GenesPCNT
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv949370
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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