A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15858481



Internal ID19930421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:9212909..9213378hg38UCSC Ensembl
chr20:9193556..9194025hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38470
hg19470
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4289076
Supporting Variants
Samples
Known GenesPLCB4
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)nssv15858481
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.057226


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