A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4279767



Internal ID20462969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:20081618..20096709hg38UCSC Ensembl
chr20:20062262..20077353hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg3815092
hg1915092
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15964887
Samples
Known GenesC20orf26
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)nsv4279767
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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