A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15926902



Internal ID19998843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12348491..12365991hg38UCSC Ensembl
chr8:12206000..12223500hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3817501
hg1917501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4160448
Supporting Variants
Samples
Known GenesFAM66A
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)nssv15926902
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.245828


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