A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4043675



Internal ID19824705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:16573734..16714152hg38UCSC Ensembl
chrX:16591857..16732275hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38140419
hg19140419
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15987804
Samples
Known GenesCTPS2, S100G
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)nsv4043675
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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