A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2506n166



Internal ID22802405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:418507..637937hg38UCSC Ensembl
chr8:368507..587937hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38219431
hg19219431
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4171894, nsv4159544
Samples
Known GenesFBXO25, TDRP
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)dgv2506n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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