A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4200349



Internal ID20409435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:4307406..4498097hg38UCSC Ensembl
chr11:4328636..4519327hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38190692
hg19190692
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15798106
Samples
Known GenesOR52B4, OR52K1, OR52K2, TRIM21
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)nsv4200349
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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