A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4568416



Internal ID20298299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46282411..46283596hg38UCSC Ensembl
chr11:46303962..46305147hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg381186
hg191186
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15787549
Samples
Known GenesCREB3L1
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)nsv4568416
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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