A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15988748



Internal ID20060691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:124992789..126063522hg38UCSC Ensembl
chrX:124126638..125197505hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg381070734
hg191070868
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4045181
Supporting Variants
Samples
Known GenesLOC100129520
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)nssv15988748
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000238


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