A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16090164



Internal ID20162120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179850073..179850275hg38UCSC Ensembl
chr1:179819208..179819410hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38203
hg19203
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4321950
Supporting Variants
Samples
Known GenesTOR1AIP2
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 ID32461652
Accession Number(s)nssv16090164
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.002075


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer