A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15788083



Internal ID19860117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113723440..113727259hg38UCSC Ensembl
chr13:114426413..114430232hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg383820
hg193820
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4334357
Supporting Variants
Samples
Known GenesGRK1
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)nssv15788083
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000092


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