A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4336342



Internal ID20186477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48949221..48965895hg38UCSC Ensembl
chr19:49452478..49469152hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3816675
hg1916675
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15788810
Samples
Known GenesBAX, FTL
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4336342
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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