A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv853n166



Internal ID22800752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6233779..6564517hg38UCSC Ensembl
chr16:6283780..6614518hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38330739
hg19330739
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4243268, nsv4245859
Samples
Known GenesRBFOX1
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)dgv853n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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