A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4119830



Internal ID20351494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:116022344..116097125hg38UCSC Ensembl
chr5:115358041..115432822hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3874782
hg1974782
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15975884
Samples
Known GenesAQPEP, ARL14EPL, COMMD10
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)nsv4119830
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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