A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3540533



Internal ID22409669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50816137..50816748hg38UCSC Ensembl
chr20:49432674..49433285hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38612
hg19612
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14299490, nssv14299491, nssv14299492
SamplesHG00512, HG00513, HG00514
Known GenesBCAS4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3540533
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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