A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4272794



Internal ID20113266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50618897..50633838hg38UCSC Ensembl
chr22:51057325..51072266hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3814942
hg1914942
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15968030
Samples
Known GenesARSA
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 ID12345678
Accession Number(s)nsv4272794
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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