A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15957706



Internal ID20029646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:87384704..87384868hg38UCSC Ensembl
chr16:87418310..87418474hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4241539
Supporting Variants
Samples
Known GenesFBXO31
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)nssv15957706
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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