A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15805701



Internal ID19531101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:124539858..124705383hg38UCSC Ensembl
chr11:124409754..124575279hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38165526
hg19165526
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4200805
Supporting Variants
Samples
Known GenesOR8A1, OR8B12, PANX3, SIAE, SPA17, TBRG1
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)nssv15805701
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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