A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15820986



Internal ID19893072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:63482626..63486713hg38UCSC Ensembl
chr14:63949344..63953431hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg384088
hg194088
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4219546
Supporting Variants
Samples
Known GenesPPP2R5E
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)nssv15820986
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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