A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4333822



Internal ID20186004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:58238243..58241550hg38UCSC Ensembl
chr2:58465378..58468685hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg383308
hg193308
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15789507
Samples
Known GenesFANCL
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)nsv4333822
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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