A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15947093



Internal ID20019033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:124653886..124655296hg38UCSC Ensembl
chrX:123787736..123789146hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg381411
hg191411
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4050200
Supporting Variants
Samples
Known GenesTENM1
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)nssv15947093
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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