A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15790066



Internal ID19862121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:33029035..33031611hg38UCSC Ensembl
chr3:33070527..33073103hg19UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg382577
hg192577
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4564232
Supporting Variants
Samples
Known GenesGLB1
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nssv15790066
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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