A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16090406



Internal ID20162361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:25943362..25944458hg38UCSC Ensembl
chr8:25800878..25801974hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg381097
hg191097
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4326045
Supporting Variants
Samples
Known GenesEBF2
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)nssv16090406
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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