A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4259346



Internal ID20450641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:15654672..15801387hg38UCSC Ensembl
chr19:15765482..15912197hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38146716
hg19146716
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15843324
Samples
Known GenesCYP4F12, CYP4F24P, CYP4F3, OR10H2, OR10H3, OR10H5
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)nsv4259346
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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