A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15989346



Internal ID20061289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:130035107..130035306hg38UCSC Ensembl
chrX:129169082..129169281hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg38200
hg19200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4040203
Supporting Variants
Samples
Known GenesBCORL1
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)nssv15989346
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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