A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv616n166



Internal ID20166044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42858310..43237331hg38UCSC Ensembl
chr13:43432446..43811467hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38379022
hg19379022
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4229314, nsv4212750, nsv4221837, nsv4231046, nsv4222445, nsv4219845
Samples
Known GenesDNAJC15, ENOX1, EPSTI1
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)dgv616n166
Frequency
Sample Size10847
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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