A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4225780



Internal ID20427641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:114225640..114248290hg38UCSC Ensembl
chr13:114991115..115013765hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3822651
hg1922651
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15950236
Samples
Known GenesCDC16
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)nsv4225780
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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