A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16019775



Internal ID20091731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:74092095..74092096hg38UCSC Ensembl
chr18:71759330..71759331hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4552709
Supporting Variants
Samples
Known GenesFBXO15
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)nssv16019775
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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