A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15800838



Internal ID19872924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:5409708..5471199hg38UCSC Ensembl
chr11:5430938..5492429hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3861492
hg1961492
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4205890
Supporting Variants
Samples
Known GenesOR51B5, OR51I1, OR51I2, OR51Q1
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)nssv15800838
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00023


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