A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15987909



Internal ID19713163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:23885126..23920668hg38UCSC Ensembl
chrX:23903243..23938785hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg3835543
hg1935543
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4050601
Supporting Variants
Samples
Known GenesAPOO, CXorf58
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)nssv15987909
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00037


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