A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15976943



Internal ID20048883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:146713000..146713130hg38UCSC Ensembl
chr5:146092563..146092693hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4112631
Supporting Variants
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)nssv15976943
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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