A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1409n166



Internal ID22801308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:384509..399238hg38UCSC Ensembl
chr20:365153..379882hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3814730
hg1914730
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4265984, nsv4258959, nsv4261419
Samples
Known GenesTRIB3
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)dgv1409n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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