A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4287122



Internal ID20466231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:23254265..23655581hg38UCSC Ensembl
chr22:23596452..23997768hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38401317
hg19401317
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15967403
Samples
Known GenesBCR, C22orf43, CES5AP1, FBXW4P1, GUSBP11, IGLL1, ZDHHC8P1
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)nsv4287122
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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