A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211113



Internal ID22358782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8166072..8181350hg38UCSC Ensembl
Outerchr19:8230956..8246234hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3815279
hg1915279
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4120n152
Supporting Variantsnssv14263576, nssv14263578, nssv14263577, nssv14263575, nssv14263574
SamplesHG00512, NA19239, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211113
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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