A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4284565



Internal ID20465091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:9070667..9148492hg38UCSC Ensembl
chr21:9909500..9987325hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3877826
hg1977826
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15966937
Samples
Known GenesTEKT4P2
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)nsv4284565
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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