A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4051781



Internal ID20176996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:2414959..2428259hg38UCSC Ensembl
chrX:2333000..2346300hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3813301
hg1913301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15987712
Samples
Known GenesDHRSX
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)nsv4051781
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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