A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15813880



Internal ID19885966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:33618456..33619184hg38UCSC Ensembl
chr13:34192593..34193321hg19UCSC Ensembl
Cytoband13q13.2
Allele length
AssemblyAllele length
hg38729
hg19729
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4227201
Supporting Variants
Samples
Known GenesSTARD13
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)nssv15813880
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.007145


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