A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1600n152



Internal ID22817303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:121176283..121189807hg38UCSC Ensembl
chr11:121046992..121060516hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3813525
hg1913525
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3232228, nsv3239435, nsv3245734
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesTECTA
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv1600n152
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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