A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15988620



Internal ID19713874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:100155110..100922679hg38UCSC Ensembl
chrX:99410108..100177668hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg38767570
hg19767561
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4517238
Supporting Variants
Samples
Known GenesCSTF2, NOX1, PCDH19, SRPX2, SYTL4, TNMD, TSPAN6, XKRX
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)nssv15988620
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000048


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