A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4117799



Internal ID20350054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:111070741..111220297hg38UCSC Ensembl
chr5:110406439..110555995hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38149557
hg19149557
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15903345
Samples
Known GenesTSLP, WDR36
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)nsv4117799
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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