A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2188n152



Internal ID22817891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:26441374..26487268hg38UCSC Ensembl
chr13:27015511..27061405hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg3845895
hg1945895
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3242386, nsv3243141
SamplesHG00512, HG00731, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv2188n152
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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