A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216708



Internal ID22362609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:29408241..29416584hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg388344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266651, nssv14266650
SamplesNA19238, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216708
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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