A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217456



Internal ID22363107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:122099116..122109598hg38UCSC Ensembl
Outerchr8:123111355..123121837hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3810483
hg1910483
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282232, nssv14278839
SamplesHG00512, HG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217456
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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