A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5207n152



Internal ID22820910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:23811900..23834873hg38UCSC Ensembl
chr20:23792537..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 Variants
Supporting Variantsnsv3216349, nsv3215841
SamplesNA19238, HG00732, HG00513
Known GenesCST2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv5207n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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