A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4273932



Internal ID20460428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:26521928..26574419hg38UCSC Ensembl
chr21:27894247..27946738hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg3852492
hg1952492
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15966305
Samples
Known GenesCYYR1
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)nsv4273932
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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