A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15941588



Internal ID20013528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:17551879..17601180hg38UCSC Ensembl
chrX:17570000..17619300hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg3849302
hg1949301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4032687
Supporting Variants
Samples
Known GenesNHS
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)nssv15941588
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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