A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15987824



Internal ID20059765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:18498036..18499000hg38UCSC Ensembl
chrX:18516156..18517120hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg38965
hg19965
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4036861
Supporting Variants
Samples
Known GenesCDKL5
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)nssv15987824
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000139


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