A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15990013



Internal ID19715267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:149308970..149584344hg38UCSC Ensembl
chrX:148390500..148666000hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38275375
hg19275501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4034548
Supporting Variants
Samples
Known GenesCXorf40A, IDS, LINC00893, MAGEA9, MAGEA9B
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)nssv15990013
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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