A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15787981



Internal ID19860013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:63308800..63308801hg38UCSC Ensembl
chr13:63882933..63882934hg19UCSC Ensembl
Cytoband13q21.31
Allele length
AssemblyAllele length
hg382
hg192
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4339333
Supporting Variants
Samples
Known Genes
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nssv15787981
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.001475


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