A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14299490



Internal ID22121193
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3540533
Supporting Variants
SamplesHG00512
Known GenesBCAS4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14299490
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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