A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4223234



Internal ID20425845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:72621817..72654064hg38UCSC Ensembl
chr14:73088525..73120772hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg3832248
hg1932248
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15956892
Samples
Known GenesDPF3
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)nsv4223234
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer