A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4535189



Internal ID20265243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:23431361..23590363hg38UCSC Ensembl
chr20:23411998..23571000hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38159003
hg19159003
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15963887
Samples
Known GenesCST11, CST13P, CST8, CST9L, CSTL1
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)nsv4535189
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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