A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16022464



Internal ID20094420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:32954827..32954828hg38UCSC Ensembl
chr19:33445733..33445734hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4556837
Supporting Variants
Samples
Known GenesCEP89
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)nssv16022464
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.089847


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