A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16090420



Internal ID20162375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:74175661..74183142hg38UCSC Ensembl
chr8:75087896..75095377hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg387482
hg197482
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4330246
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)nssv16090420
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.010648


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