A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4198741



Internal ID20408259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:64317986..64320108hg38UCSC Ensembl
chr11:64085458..64087580hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg382123
hg192123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15803658
Samples
Known GenesPRDX5, TRMT112
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)nsv4198741
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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