A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15942696



Internal ID20014636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:16696218..16696279hg38UCSC Ensembl
chrX:16714341..16714402hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4035379
Supporting Variants
Samples
Known GenesCTPS2
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)nssv15942696
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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