A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15954093



Internal ID20026033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:2600799..2608999hg38UCSC Ensembl
chr16:2650800..2659000hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg388201
hg198201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4250051
Supporting Variants
Samples
Known GenesLOC652276, PDPK1
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)nssv15954093
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000845


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