A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2400n152



Internal ID22818103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:100055801..100066753hg38UCSC Ensembl
chr13:100708055..100719007hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg3810953
hg1910953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3239930, nsv3239064
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv2400n152
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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