A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268649



Internal ID22257538
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212346
Supporting Variants
SamplesNA19238
Known GenesHLCS
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268649
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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