A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226837



Internal ID22369509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:19240256..19251624hg38UCSC Ensembl
Outerchr20:19220900..19232268hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg3811369
hg1911369
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266313
SamplesHG00512
Known GenesLOC100130264, SLC24A3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226837
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