A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15979120



Internal ID19704374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:108521418..108568632hg38UCSC Ensembl
chr6:108842621..108889835hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3847215
hg1947215
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4152365
Supporting Variants
Samples
Known GenesFOXO3, LACE1
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)nssv15979120
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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