A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15817928



Internal ID19890014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110606653..110623653hg38UCSC Ensembl
chr13:111259000..111276000hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3817001
hg1917001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4232436
Supporting Variants
Samples
Known GenesCARKD
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)nssv15817928
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000047


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