A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4289183



Internal ID20467156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:23829374..23917122hg38UCSC Ensembl
chr22:24171561..24259309hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3887749
hg1987749
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1537n166
Supporting Variantsnssv15967440
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)nsv4289183
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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