A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214343



Internal ID22361022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:24402706..24412250hg38UCSC Ensembl
Outerchr20:24383342..24392886hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg389545
hg199545
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266290
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214343
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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