A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213454



Internal ID22360399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:93051463..93079899hg38UCSC Ensembl
Outerchr8:94063691..94092128hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3828437
hg1928438
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280987, nssv14280986
SamplesNA19238, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213454
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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