A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4193743



Internal ID20404631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:5298423..5307249hg38UCSC Ensembl
chr11:5319653..5328479hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg388827
hg198827
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15798184
Samples
Known GenesOR51B4
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)nsv4193743
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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