A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5128n152



Internal ID22820831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241567021..241597645hg38UCSC Ensembl
chr2:242506436..242537060hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3830625
hg1930625
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3227227, nsv3224705
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesBOK, THAP4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv5128n152
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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