A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15788582



Internal ID19860624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80223527..80224652hg38UCSC Ensembl
chr17:78197326..78198451hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381126
hg191126
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4557589
Supporting Variants
Samples
Known GenesSLC26A11
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)nssv15788582
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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