A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4343459



Internal ID20187879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:124323164..124401934hg38UCSC Ensembl
chr11:124193060..124271830hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3878771
hg1978771
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15787667
Samples
Known GenesOR8B2, OR8B3
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)nsv4343459
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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