A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15827226



Internal ID19899312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:14670404..14675723hg38UCSC Ensembl
chr16:14764261..14769580hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg385320
hg195320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4233727
Supporting Variants
Samples
Known GenesPLA2G10
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)nssv15827226
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00005


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