A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16006939



Internal ID20078895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:39405879..39405880hg38UCSC Ensembl
chr14:39875083..39875084hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg382948
hg192948
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4572547
Supporting Variants
Samples
Known GenesFBXO33
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)nssv16006939
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.227759


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