A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4116054



Internal ID20348833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:12780179..13237749hg38UCSC Ensembl
chr5:12780291..13237861hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38457571
hg19457571
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1949n166
Supporting Variantsnssv15976249
Samples
Known GenesCT49
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)nsv4116054
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