A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15969049



Internal ID20040989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:229848423..230038610hg38UCSC Ensembl
chr2:230713139..230903326hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38190188
hg19190188
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4087787
Supporting Variants
Samples
Known GenesFBXO36, SLC16A14, TRIP12
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)nssv15969049
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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