A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2821n166



Internal ID20168249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:389831..641518hg38UCSC Ensembl
chrX:350566..602253hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38251688
hg19251688
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4034184, nsv4046460, nsv4044353, nsv4038198
Samples
Known GenesSHOX
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)dgv2821n166
Frequency
Sample Size10847
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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