A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226124



Internal ID22369039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:85654843..85790535hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38135693
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9237n152
Supporting Variantsnssv14281606
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226124
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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