A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15951935



Internal ID20023875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110628995..110676923hg38UCSC Ensembl
chr13:111281342..111329270hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3847929
hg1947929
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4219860
Supporting Variants
Samples
Known GenesCARKD, CARS2
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)nssv15951935
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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