A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15831874



Internal ID19903960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:78441017..78588428hg38UCSC Ensembl
chr16:78474914..78622325hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38147412
hg19147412
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4243860
Supporting Variants
Samples
Known GenesWWOX
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)nssv15831874
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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