A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224589



Internal ID22367972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:29690720..29741140hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3850421
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266265, nssv14266264
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224589
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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