A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4220184



Internal ID20077012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:76879876..77168849hg38UCSC Ensembl
chr13:77454011..77742984hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg38288974
hg19288974
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15955253
Samples
Known GenesBTF3P11, CLN5, FBXL3, IRG1, KCTD12, MYCBP2, MYCBP2-AS1
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 ID12345678
Accession Number(s)nsv4220184
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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