A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15786579



Internal ID19858590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:153287392..153293542hg38UCSC Ensembl
chrX:152552850..152559000hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg386151
hg196151
Variant TypeOTHER copy number variation
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4033737
Supporting Variants
Samples
Known Genes
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)nssv15786579
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.018346


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