A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15955726



Internal ID19680980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:85669538..86203138hg38UCSC Ensembl
chr16:85703144..86236744hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38533601
hg19533601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4238064
Supporting Variants
Samples
Known GenesC16orf74, COX4I1, EMC8, GINS2, GSE1, IRF8, LINC01082, MIR1910, MIR6774, MIR7851
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 ID12345678
Accession Number(s)nssv15955726
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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