A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15788061



Internal ID19860095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:99399008..99408869hg38UCSC Ensembl
chr13:100051262..100061123hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg389862
hg199862
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4558925
Supporting Variants
Samples
Known GenesMIR548AN
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)nssv15788061
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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