A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15953343



Internal ID20025283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28348679..28449679hg38UCSC Ensembl
chr16:28360000..28461000hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38101001
hg19101001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4246816
Supporting Variants
Samples
Known GenesEIF3C, EIF3CL, MIR6862-1, MIR6862-2, NPIPB6
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)nssv15953343
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003969


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