A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4536648



Internal ID20266649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46621987..46699288hg38UCSC Ensembl
chr21:48041899..48119200hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3877302
hg1977302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15863623
Samples
Known GenesPRMT2
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)nsv4536648
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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