A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4276898



Internal ID20461722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50196974..50198776hg38UCSC Ensembl
chr22:50635403..50637205hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg381803
hg191803
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15866148
Samples
Known GenesTRABD
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)nsv4276898
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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