A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2749n152



Internal ID22818452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:100673273..100711670hg38UCSC Ensembl
chr14:101139610..101178007hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3838398
hg1938398
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3238782, nsv3236793
SamplesHG00512, NA19238, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv2749n152
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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