A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv452n152



Internal ID22816155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:165882960..165893227hg38UCSC Ensembl
chr1:165852197..165862464hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg3810268
hg1910268
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3219939, nsv3215549
SamplesNA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesUCK2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv452n152
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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