A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15953267



Internal ID19678521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:23059285..23106902hg38UCSC Ensembl
chr16:23070606..23118223hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg3847618
hg1947618
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4234316
Supporting Variants
Samples
Known GenesUSP31
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)nssv15953267
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000138


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