A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2944n166



Internal ID20168372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:149648277..149724850hg38UCSC Ensembl
chrX:148729946..148806510hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3876574
hg1976565
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4050711, nsv4051358
Samples
Known GenesMAGEA11
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)dgv2944n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer