A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4288316



Internal ID20466749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17488181..17494944hg38UCSC Ensembl
chr22:17967213..17973976hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg386764
hg196764
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1533n166
Supporting Variantsnssv15862071
Samples
Known GenesCECR2
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)nsv4288316
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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