A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1533n166



Internal ID22801432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17487380..17495590hg38UCSC Ensembl
chr22:17966412..17974622hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg388211
hg198211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4288316, nsv4289501
Samples
Known GenesCECR2
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)dgv1533n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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