A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16090173



Internal ID20162129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:222969512..222970032hg38UCSC Ensembl
chr1:223142854..223143374hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38521
hg19521
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4320188
Supporting Variants
Samples
Known GenesDISP1
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)nssv16090173
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000092


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