A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15942050



Internal ID20013990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:13757649..13758483hg38UCSC Ensembl
chrX:13775768..13776602hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38835
hg19835
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4044966
Supporting Variants
Samples
Known GenesOFD1
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)nssv15942050
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000047


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