A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15822865



Internal ID19894951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:78397722..78460659hg38UCSC Ensembl
chr14:78864065..78927002hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3862938
hg1962938
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4232048
Supporting Variants
Samples
Known GenesNRXN3
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)nssv15822865
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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