A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16090441



Internal ID20162396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:142875702..142876303hg38UCSC Ensembl
chr8:143957118..143957719hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4318394
Supporting Variants
Samples
Known GenesCYP11B1
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)nssv16090441
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000092


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