A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4268116



Internal ID20456751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:255359..279759hg38UCSC Ensembl
chr20:236000..260400hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3824401
hg1924401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15857754
Samples
Known GenesC20orf96, DEFB132
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)nsv4268116
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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