A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4481351



Internal ID19864698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:116847100..116847101hg38UCSC Ensembl
chr8:117859339..117859340hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16081662
Samples
Known GenesRAD21
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)nsv4481351
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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