A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4493313



Internal ID20223363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:146767200..146767201hg38UCSC Ensembl
chr5:146146763..146146764hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16064559
Samples
Known GenesPPP2R2B
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)nsv4493313
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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