A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15988681



Internal ID20060624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:104687319..104717319hg38UCSC Ensembl
chrX:103932000..103962000hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg3830001
hg1930001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4035537
Supporting Variants
Samples
Known GenesIL1RAPL2
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)nssv15988681
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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