A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15990447



Internal ID20062390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:154165625..154240637hg38UCSC Ensembl
chrX:153431100..153506110hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3875013
hg1975011
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4035426
Supporting Variants
Samples
Known GenesOPN1MW, OPN1MW2, TEX28
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)nssv15990447
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.062744


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