A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4121579



Internal ID20352724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60414913..60477374hg38UCSC Ensembl
chr5:59710740..59773201hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3862462
hg1962462
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15976759
Samples
Known GenesPDE4D
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)nsv4121579
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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