A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1270n152



Internal ID22816973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:11785603..11811602hg38UCSC Ensembl
chr11:11807150..11833149hg19UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg3826000
hg1926000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3211508, nsv3227072
SamplesHG00512, NA19238, HG00731, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv1270n152
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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