A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9236n152



Internal ID22824939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:85647213..85790535hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38143323
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3232137, nsv3246560, nsv3232916
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv9236n152
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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