A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15950314



Internal ID20022254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:44617287..44619490hg38UCSC Ensembl
chr11:44638837..44641040hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg382204
hg192204
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4193804
Supporting Variants
Samples
Known GenesCD82
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)nssv15950314
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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