A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4318433



Internal ID20184826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92390509..92440443hg38UCSC Ensembl
chr12:92784285..92834219hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3849935
hg1949935
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16090797
Samples
Known GenesCLLU1, CLLU1OS
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)nsv4318433
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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