A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15787568



Internal ID19859593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:58150575..58366294hg38UCSC Ensembl
chr11:57918047..58133767hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38215720
hg19215721
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4334316
Supporting Variants
Samples
Known GenesOR10Q1, OR10W1, OR1S1, OR1S2, OR5B17, OR9Q1, OR9Q2
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)nssv15787568
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000092


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