A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4273762



Internal ID20113670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43680575..43762549hg38UCSC Ensembl
chr21:45100456..45182430hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3881975
hg1981975
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15967660
Samples
Known GenesPDXK, RRP1B
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 ID12345678
Accession Number(s)nsv4273762
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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