A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16091258



Internal ID20163202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247353877..247478294hg38UCSC Ensembl
chr1:247517179..247641596hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38124418
hg19124418
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4322581
Supporting Variants
Samples
Known GenesNLRP3, OR2B11
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)nssv16091258
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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