A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15820918



Internal ID19893004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:62040335..62048997hg38UCSC Ensembl
chr14:62507053..62515715hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg388663
hg198663
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4213844
Supporting Variants
Samples
Known GenesSYT16
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)nssv15820918
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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