A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213377



Internal ID22360346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:30600062..30656608hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3856547
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5229n152
Supporting Variantsnssv14266663
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213377
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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