A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15959243



Internal ID19684497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7570682..7575932hg38UCSC Ensembl
chr17:7474000..7479250hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg385251
hg195251
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4243610
Supporting Variants
Samples
Known GenesEIF4A1, SENP3, SENP3-EIF4A1, SNORA48
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)nssv15959243
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002834


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