A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4288513



Internal ID20466839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:32130274..32170624hg38UCSC Ensembl
chr22:32526261..32566611hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3840351
hg1940351
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15968381
Samples
Known GenesAP1B1P1, C22orf42
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)nsv4288513
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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