A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16083481



Internal ID19808751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109369507..109369508hg38UCSC Ensembl
chr8:110381736..110381737hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4560038
Supporting Variants
Samples
Known GenesPKHD1L1
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)nssv16083481
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000139


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