A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15946992



Internal ID20018933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:120943263..120986146hg38UCSC Ensembl
chrX:120077117..120120000hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3842884
hg1942884
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4047573
Supporting Variants
Samples
Known GenesCT47A1, CT47A10, CT47A11, CT47A12, CT47A2, CT47A3, CT47A4, CT47A5, CT47A6, CT47A7, CT47A8, CT47A9
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)nssv15946992
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.448125


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