A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15927118



Internal ID19999058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42713857..42718857hg38UCSC Ensembl
chr8:42569000..42574000hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg385001
hg195001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4168914
Supporting Variants
Samples
Known GenesCHRNB3
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)nssv15927118
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002503


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer