A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4280511



Internal ID20463302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14567859..14791891hg38UCSC Ensembl
chr20:14548505..14772537hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38224033
hg19224033
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1422n166
Supporting Variantsnssv15859246
Samples
Known GenesMACROD2, MACROD2-IT1
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)nsv4280511
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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