A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15988182



Internal ID19713436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:41339999..41341109hg38UCSC Ensembl
chrX:41199252..41200362hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg381111
hg191111
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4041598
Supporting Variants
Samples
Known GenesDDX3X
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)nssv15988182
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002081


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