A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15967442



Internal ID20039382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:23837385..23939416hg38UCSC Ensembl
chr22:24179572..24281603hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38102032
hg19102032
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4281304
Supporting Variants
Samples
Known GenesDERL3, LOC284889, MIF, SLC2A11
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)nssv15967442
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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