A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2682n152



Internal ID22818385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:80478329..80504984hg38UCSC Ensembl
chr14:80944672..80971327hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3826656
hg1926656
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3236506, nsv3250310
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesCEP128
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv2682n152
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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