A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15787650



Internal ID19859677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:112292835..112297885hg38UCSC Ensembl
chr11:112163558..112168608hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg385051
hg195051
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4345298
Supporting Variants
Samples
Known Genes
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)nssv15787650
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.001291


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