A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15989572



Internal ID19714826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:70226815..70265265hg38UCSC Ensembl
chrX:69446665..69485115hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg3838451
hg1938451
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4044726
Supporting Variants
Samples
Known GenesAWAT1, P2RY4
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)nssv15989572
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000185


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