A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4128020



Internal ID20357248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:123219428..123409986hg38UCSC Ensembl
chr5:122555122..122745680hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38190559
hg19190559
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15975966
Samples
Known GenesCEP120
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)nsv4128020
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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