A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4289522



Internal ID20467310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17792287..17798705hg38UCSC Ensembl
chr22:18275053..18281471hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg386419
hg196419
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15862102
Samples
Known GenesMICAL3
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)nsv4289522
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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