A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1537n166



Internal ID22801436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:23829374..23939416hg38UCSC Ensembl
chr22:24171561..24281603hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38110043
hg19110043
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4281304, nsv4289183
Samples
Known GenesDERL3, LOC284889, MIF, SLC2A11, SMARCB1
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)dgv1537n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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