A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4291736



Internal ID20183579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41230759..41231600hg38UCSC Ensembl
chr22:41626763..41627604hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38842
hg19842
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15865361
Samples
Known GenesCHADL, L3MBTL2
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)nsv4291736
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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