A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16091288



Internal ID19816546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17532344..17565983hg38UCSC Ensembl
chr22:18012040..18045694hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3833640
hg1933655
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4325720
Supporting Variants
Samples
Known GenesCECR2, SLC25A18
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 ID12345678
Accession Number(s)nssv16091288
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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