A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4272732



Internal ID20459923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:32926519..32932248hg38UCSC Ensembl
chr22:33322504..33328233hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg385730
hg195730
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1544n166
Supporting Variantsnssv15862436
Samples
Known GenesSYN3
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)nsv4272732
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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