A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4284568



Internal ID20465092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33860106..33876854hg38UCSC Ensembl
chr22:34256094..34272842hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3816749
hg1916749
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15968408
Samples
Known GenesLARGE
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)nsv4284568
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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