A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16091299



Internal ID20163243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:100201713..100202351hg38UCSC Ensembl
chr2:100818175..100818813hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38639
hg19639
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4571071
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)nssv16091299
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.008666


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