A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7859n152



Internal ID22823562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:37500875..37513891hg38UCSC Ensembl
chr6:37468651..37481667hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3813017
hg1913017
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3222097, nsv3229064
SamplesHG00512, NA19238, NA19239, HG00732, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv7859n152
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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