A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15814582



Internal ID19539982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:55212162..57481986hg38UCSC Ensembl
chr13:55786297..58056120hg19UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg382269825
hg192269824
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4220484
Supporting Variants
Samples
Known GenesPRR20A, PRR20B, PRR20C, PRR20D, PRR20E
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 ID12345678
Accession Number(s)nssv15814582
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000143


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