A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15990018



Internal ID20061961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:149557456..149748339hg38UCSC Ensembl
chrX:148639000..148830000hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38190884
hg19191001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4041245
Supporting Variants
Samples
Known GenesHSFX1, HSFX2, MAGEA11, MAGEA9, MAGEA9B, TMEM185A
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)nssv15990018
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000509


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