A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3083n152



Internal ID22818786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:793227..910898hg38UCSC Ensembl
chr16:843227..960898hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38117672
hg19117672
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3233032, nsv3243163
SamplesHG00512, NA19238, NA19239, HG00513, HG00514
Known GenesCHTF18, GNG13, LMF1, PRR25
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv3083n152
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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