A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4116091



Internal ID20348854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139347936..139365223hg38UCSC Ensembl
chr5:138683625..138700912hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3817288
hg1917288
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15976481
Samples
Known GenesPAIP2
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)nsv4116091
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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