A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15830120



Internal ID19902206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:74834683..74957866hg38UCSC Ensembl
chr16:74868581..74991764hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38123184
hg19123184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4250155
Supporting Variants
Samples
Known GenesWDR59
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)nssv15830120
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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