A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv947354



Internal ID16241310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:42436483..42456827hg38UCSC Ensembl
Innerchr21:43856593..43876937hg19UCSC Ensembl
Innerchr21:42729662..42750006hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3820345
hg1920345
hg1820345
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587630
Supporting Variants
Samples
Known GenesUBASH3A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv947354
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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