A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216349



Internal ID22362369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:23811900..23834873hg38UCSC Ensembl
Outerchr20:23792537..23815510hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg3822974
hg1922974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5207n152
Supporting Variantsnssv14266335
SamplesHG00513
Known GenesCST2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216349
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