A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15979212



Internal ID20051152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:158648319..158650708hg38UCSC Ensembl
chr6:159069351..159071740hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg382390
hg192390
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4145482
Supporting Variants
Samples
Known GenesSYTL3
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)nssv15979212
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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