A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15788590



Internal ID19860632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:83087910..83111359hg38UCSC Ensembl
chr17:81045786..81068309hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3823450
hg1922524
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4337611
Supporting Variants
Samples
Known GenesMETRNL
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)nssv15788590
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00461


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