A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15989992



Internal ID20061935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:147038313..147050757hg38UCSC Ensembl
chrX:146119831..146132275hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg3812445
hg1912445
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4047143
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)nssv15989992
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004326


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