A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15788173



Internal ID19513522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77518465..77519329hg38UCSC Ensembl
chr14:77984808..77985672hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38865
hg19865
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4561120
Supporting Variants
Samples
Known GenesSPTLC2
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv15788173
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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