A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4286839



Internal ID20466101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:31261428..31438822hg38UCSC Ensembl
chr20:29849231..30026625hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38177395
hg19177395
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15965995
Samples
Known GenesDEFB116, DEFB118, DEFB119, DEFB121, DEFB122
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)nsv4286839
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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