A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4272770



Internal ID20459941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:8742916..9418531hg38UCSC Ensembl
chr20:8723563..9399178hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg38675616
hg19675616
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15965982
Samples
Known GenesPLCB1, PLCB4
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)nsv4272770
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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