A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4286105



Internal ID20465778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36024517..36026091hg38UCSC Ensembl
chr22:36420565..36422139hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg381575
hg191575
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15968442
Samples
Known GenesRBFOX2
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)nsv4286105
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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