A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15789189



Internal ID19861238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:750097..844147hg38UCSC Ensembl
chr20:730741..824790hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3894051
hg1994050
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4335371
Supporting Variants
Samples
Known GenesFAM110A, SLC52A3
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nssv15789189
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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