A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15950902



Internal ID20022842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:24016591..24051091hg38UCSC Ensembl
chr14:24485800..24520300hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3834501
hg1934501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4222413
Supporting Variants
Samples
Known GenesDHRS4L1
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)nssv15950902
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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