A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1603n152



Internal ID22817306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:121972928..122032486hg38UCSC Ensembl
chr11:121843636..121903194hg19UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg3859559
hg1959559
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3237290, nsv3238969
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)dgv1603n152
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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