A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8081n152



Internal ID22823784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:121814016..121840604hg38UCSC Ensembl
chr6:122135162..122161750hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3826589
hg1926589
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3229333, nsv3230190
SamplesNA19238, NA19239, HG00732, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv8081n152
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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