A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4291909



Internal ID20183654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:23876056..23918757hg38UCSC Ensembl
chr20:23856693..23899394hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg3842702
hg1942702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15963898
Samples
Known GenesCST5
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)nsv4291909
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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