A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15806658



Internal ID19532058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:120249674..120249867hg38UCSC Ensembl
chr11:120120383..120120576hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4194877
Supporting Variants
Samples
Known GenesLOC649133, POU2F3
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)nssv15806658
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000184


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