A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5868n152



Internal ID22821571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:10112148..10142880hg38UCSC Ensembl
chr3:10153832..10184564hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg3830733
hg1930733
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3221648, nsv3224970
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesBRK1, VHL
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv5868n152
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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