A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15968293



Internal ID20040233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:20316477..20321577hg38UCSC Ensembl
chr22:20304000..20309100hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg385101
hg195101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4283437
Supporting Variants
Samples
Known GenesDGCR6L
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)nssv15968293
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000096


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