A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv941249



Internal ID15888519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54031284..54037873hg38UCSC Ensembl
Innerchr20:52647823..52654412hg19UCSC Ensembl
Innerchr20:52081230..52087819hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg386590
hg196590
hg186590
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv586238
Supporting Variants
Samples
Known GenesBCAS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv941249
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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