A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4342305



Internal ID19840973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40827099..41121074hg38UCSC Ensembl
chr19:41333004..41626979hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38293976
hg19293976
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15788796
Samples
Known GenesCYP2A13, CYP2A6, CYP2A7, CYP2B6, CYP2B7P, CYP2F1, CYP2G1P
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 ID12345678
Accession Number(s)nsv4342305
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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