A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5664n152



Internal ID22821367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17524169..17581613hg38UCSC Ensembl
chr22:18003195..18064379hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3857445
hg1961185
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3232663, nsv3242900
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00513, HG00514
Known GenesCECR2, SLC25A18
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv5664n152
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer