A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4286439



Internal ID20465931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46150875..46151680hg38UCSC Ensembl
chr22:46546778..46547583hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38806
hg19n/a
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15865096
Samples
Known GenesPPARA
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)nsv4286439
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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