A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4123063



Internal ID20353736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41927767..41927915hg38UCSC Ensembl
chr5:41927869..41928017hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15975003
Samples
Known GenesFBXO4
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)nsv4123063
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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