A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215841



Internal ID22362037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:23811900..23831754hg38UCSC Ensembl
Outerchr20:23792537..23812391hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg3819855
hg1919855
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5207n152
Supporting Variantsnssv14266642, nssv14266643
SamplesNA19238, HG00732
Known GenesCST2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215841
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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