A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4198181



Internal ID20407856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:63601335..63611001hg38UCSC Ensembl
chr11:63368807..63378473hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg389667
hg199667
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15803606
Samples
Known GenesPLA2G16
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)nsv4198181
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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