A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15966841



Internal ID20038781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:2224825..2385108hg38UCSC Ensembl
chr20:2205471..2365754hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38160284
hg19160284
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4536889
Supporting Variants
Samples
Known GenesTGM3, TGM6
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)nssv15966841
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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