A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4274720



Internal ID20460769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25155984..25531062hg38UCSC Ensembl
chr22:25551951..25927029hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38375079
hg19375079
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15967490
Samples
Known GenesCRYBB2, CRYBB2P1, CRYBB3, IGLL3P, KIAA1671, 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)nsv4274720
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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