A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4346n152



Internal ID22820049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54086065..54143918hg38UCSC Ensembl
chr19:54589338..54647654hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3857854
hg1958317
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3242317, nsv3250119
SamplesHG00732, HG00513
Known GenesCNOT3, NDUFA3, OSCAR, PRPF31, TFPT
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv4346n152
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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