A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15990442



Internal ID19715696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:153704296..153765235hg38UCSC Ensembl
chrX:152969751..153030690hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3860940
hg1960940
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4049537
Supporting Variants
Samples
Known GenesABCD1, BCAP31, PLXNB3
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)nssv15990442
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0057


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