A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16082696



Internal ID20154652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:99667243..99667244hg38UCSC Ensembl
chr8:100679471..100679472hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg38620
hg19620
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4558049
Supporting Variants
Samples
Known GenesVPS13B
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)nssv16082696
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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