A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15832025



Internal ID19904111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55889631..55898317hg38UCSC Ensembl
chr16:55923543..55932229hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg388687
hg198687
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4248171
Supporting Variants
Samples
Known GenesCES5A
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)nssv15832025
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000184


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