A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15819714



Internal ID19545114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:36743969..36749346hg38UCSC Ensembl
chr14:37213174..37218551hg19UCSC Ensembl
Cytoband14q13.3
Allele length
AssemblyAllele length
hg385378
hg195378
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4220890
Supporting Variants
Samples
Known GenesSLC25A21
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)nssv15819714
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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