A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4284763



Internal ID20465183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41682938..41698543hg38UCSC Ensembl
chr22:42078942..42094547hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3815606
hg1915606
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15865394
Samples
Known GenesC22orf46, NHP2L1
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)nsv4284763
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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