A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4287980



Internal ID20466605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25258404..25730517hg38UCSC Ensembl
chr22:25654371..26126484hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38472114
hg19472114
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15965676
Samples
Known GenesADRBK2, CRYBB2P1, IGLL3P, LRP5L, MIR6817
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)nsv4287980
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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