A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv655n166



Internal ID20166083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:72677686..72772167hg38UCSC Ensembl
chr13:73251824..73346305hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3894482
hg1994482
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4213179, nsv4231059
Samples
Known GenesBORA, DIS3, MZT1
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 ID12345678
Accession Number(s)dgv655n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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