A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3797n152



Internal ID22819500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:27845739..27865142hg38UCSC Ensembl
chr18:25425703..25445106hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3819404
hg1919404
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3246622, nsv3249989
SamplesNA19238, HG00731, HG00732, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv3797n152
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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