A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4345233



Internal ID20188201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38127667..38129022hg38UCSC Ensembl
chr22:38523674..38525029hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg381356
hg191356
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15789380
Samples
Known GenesPLA2G6
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)nsv4345233
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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