A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4286343



Internal ID20465882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19173562..19205430hg38UCSC Ensembl
chr22:19161075..19192940hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3831869
hg1931866
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15864592
Samples
Known GenesCLTCL1, SLC25A1
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)nsv4286343
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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