A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16091193



Internal ID20163137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:128270148..128278319hg38UCSC Ensembl
chr3:127988991..127997162hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg388172
hg198172
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4331666
Supporting Variants
Samples
Known GenesEEFSEC
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)nssv16091193
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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