A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15946302



Internal ID20018242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:110070789..110094562hg38UCSC Ensembl
chrX:109314017..109337790hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg3823774
hg1923774
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4034939
Supporting Variants
Samples
Known GenesMIR3978, TMEM164
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 ID32461652
Accession Number(s)nssv15946302
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000139


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