A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15926534



Internal ID19998474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:67308027..67309722hg38UCSC Ensembl
chr8:68220262..68221957hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg381696
hg191696
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4167097
Supporting Variants
Samples
Known GenesARFGEF1
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)nssv15926534
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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