A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15989236



Internal ID19714490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:114967243..115163581hg38UCSC Ensembl
chrX:114201806..114398144hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38196339
hg19196339
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4036657
Supporting Variants
Samples
Known GenesIL13RA2, LRCH2
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)nssv15989236
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000903


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