A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15954985



Internal ID20026925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:69815142..69824970hg38UCSC Ensembl
chr16:69849045..69858873hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg389829
hg199829
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4234407
Supporting Variants
Samples
Known GenesWWP2
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)nssv15954985
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003596


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