A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1530n166



Internal ID20166958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45750968..46109638hg38UCSC Ensembl
chr21:47170882..47529552hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38358671
hg19358671
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4286338, nsv4284975
Samples
Known GenesCOL6A1, COL6A2, LOC100129027, PCBP3
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)dgv1530n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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