A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15857779



Internal ID19929719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:387040..418619hg38UCSC Ensembl
chr20:367684..399263hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3831580
hg1931580
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4264553
Supporting Variants
Samples
Known GenesRBCK1, TRIB3
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)nssv15857779
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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