A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15987805



Internal ID19713059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:16647974..16674665hg38UCSC Ensembl
chrX:16666097..16692788hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3826692
hg1926692
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4038645
Supporting Variants
Samples
Known GenesCTPS2, S100G
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)nssv15987805
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000277


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