A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4113940



Internal ID20347331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:147455469..147464723hg38UCSC Ensembl
chr5:146835032..146844286hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg389255
hg199255
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15905596
Samples
Known GenesDPYSL3
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)nsv4113940
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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