A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15966035



Internal ID20037980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:33277741..33338749hg38UCSC Ensembl
chr20:31865547..31926555hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3861009
hg1961009
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4276485
Supporting Variants
Samples
Known GenesBPIFB1
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)nssv15966035
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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