A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15790454



Internal ID19862514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:20995749..20999804hg38UCSC Ensembl
chr5:20995858..20999913hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg384056
hg194056
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4561501
Supporting Variants
Samples
Known Genes
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)nssv15790454
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.019484


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