A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266854



Internal ID22224408
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220218
Supporting Variants
SamplesHG00733
Known GenesBCAS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266854
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer