A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15819745



Internal ID19891831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:65088834..65090601hg38UCSC Ensembl
chr14:65555552..65557319hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg381768
hg191768
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4214722
Supporting Variants
Samples
Known GenesLOC100506321, MAX
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)nssv15819745
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001475


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