A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4286976



Internal ID20466167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46318464..46320442hg38UCSC Ensembl
chr21:47738378..47740356hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381979
hg191979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15863600
Samples
Known GenesC21orf58
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)nsv4286976
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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