A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15979145



Internal ID19704399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:111084676..111314615hg38UCSC Ensembl
chr6:111405879..111635818hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38229940
hg19229940
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4142886
Supporting Variants
Samples
Known GenesKIAA1919, REV3L, SLC16A10
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)nssv15979145
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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