A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4283993



Internal ID20464852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42706664..42708471hg38UCSC Ensembl
chr22:43102670..43104477hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg381808
hg191808
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1557n166
Supporting Variantsnssv15864216
Samples
Known GenesA4GALT
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)nsv4283993
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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