A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4215874



Internal ID20420636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23043329..23043593hg38UCSC Ensembl
chr14:23512538..23512802hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15950881
Samples
Known GenesPSMB11
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)nsv4215874
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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