A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15862473



Internal ID19934413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33712277..33740704hg38UCSC Ensembl
chr22:34108263..34136691hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3828428
hg1928429
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4273840
Supporting Variants
Samples
Known GenesLARGE, LARGE-AS1
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)nssv15862473
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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