A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212346



Internal ID22359624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:36774824..36784348hg38UCSC Ensembl
Outerchr21:38147125..38156649hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg389525
hg199525
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268650, nssv14268649
SamplesNA19238, NA19240
Known GenesHLCS
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212346
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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