A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3111n152



Internal ID22818814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1851576..1894580hg38UCSC Ensembl
chr16:1901577..1944581hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3843005
hg1943005
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3237147, nsv3236533
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLINC00254, MEIOB
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv3111n152
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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