A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15945986



Internal ID20017927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:28223159..28230375hg38UCSC Ensembl
chr11:28244706..28251922hg19UCSC Ensembl
Cytoband11p14.1
Allele length
AssemblyAllele length
hg387217
hg197217
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4211178
Supporting Variants
Samples
Known GenesMETTL15
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)nssv15945986
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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