A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4281990



Internal ID20117266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:29016135..29035272hg38UCSC Ensembl
chr21:30388456..30407593hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg3819138
hg1919138
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15964970
Samples
Known GenesRWDD2B, USP16
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)nsv4281990
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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