A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220218



Internal ID22364985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:54021104..54045626hg38UCSC Ensembl
Outerchr20:52637643..52662165hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3824523
hg1924523
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266854, nssv14266853
SamplesHG00731, HG00733
Known GenesBCAS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220218
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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