A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15952817



Internal ID19678071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:81462748..81580341hg38UCSC Ensembl
chr14:81929092..82046685hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38117594
hg19117594
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4226317
Supporting Variants
Samples
Known GenesSEL1L
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)nssv15952817
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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