A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220243



Internal ID22364998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:29112228..30169882hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg381057655
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5221n152
Supporting Variantsnssv14266649, nssv14266647, nssv14266648
SamplesNA19238, NA19239, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220243
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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