A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1591n152



Internal ID22817294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118798162..118817537hg38UCSC Ensembl
chr11:118668871..118688246hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3819376
hg1919376
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3248686, nsv3236422
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)dgv1591n152
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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