A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15954372



Internal ID20026312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:132975332..133130095hg38UCSC Ensembl
chr11:132845227..132999990hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38154764
hg19154764
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4209401
Supporting Variants
Samples
Known GenesOPCML
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)nssv15954372
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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