A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16091050



Internal ID19816314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:83664166..83665316hg38UCSC Ensembl
chr15:84332918..84334068hg19UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg381151
hg191151
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4326317
Supporting Variants
Samples
Known GenesADAMTSL3
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
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv16091050
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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