A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16090160



Internal ID19815430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:22431102..22431384hg38UCSC Ensembl
chr1:22757595..22757877hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38283
hg19283
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4322371
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 ID12345678
Accession Number(s)nssv16090160
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.235765


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