A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16090187



Internal ID20162143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:45839665..45854805hg38UCSC Ensembl
chr6:45807402..45822542hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3815141
hg1915141
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4330296
Supporting Variants
Samples
Known Genes
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)nssv16090187
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000184


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