A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15974351



Internal ID20046291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:434470..498493hg38UCSC Ensembl
chr5:434585..498608hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3864024
hg1964024
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4120298
Supporting Variants
Samples
Known GenesAHRR, C5orf55, EXOC3, PP7080, SLC9A3
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)nssv15974351
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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