A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4258209



Internal ID20449837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54279086..54297011hg38UCSC Ensembl
chr19:54782941..54802814hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3817926
hg1919874
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15962519
Samples
Known GenesLILRA3, LILRB2, MIR4752
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)nsv4258209
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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