A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4279744



Internal ID20116271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:23393385..24073731hg38UCSC Ensembl
chr20:23374022..24054368hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38680347
hg19680347
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15963886
Samples
Known GenesCST1, CST11, CST13P, CST2, CST3, CST4, CST5, CST8, CST9, CST9L, CSTL1, GGTLC1, NAPB
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)nsv4279744
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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