A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211215



Internal ID22358846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:76872055..76987838hg38UCSC Ensembl
Outerchr8:77784291..77900074hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38115784
hg19115784
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278869, nssv14278868
SamplesHG00513, HG00514
Known GenesPEX2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211215
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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