A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15987441



Internal ID20059382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:320650..330115hg38UCSC Ensembl
chrX:281384..290850hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg389466
hg199467
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4050759
Supporting Variants
Samples
Known GenesLINC00685
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)nssv15987441
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00339


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