A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15953345



Internal ID20025285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28363479..28408179hg38UCSC Ensembl
chr16:28374800..28419500hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3844701
hg1944701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4247956
Supporting Variants
Samples
Known GenesEIF3C, EIF3CL, MIR6862-1, MIR6862-2
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)nssv15953345
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00299


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