A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15990462



Internal ID19715716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:155175798..155325332hg38UCSC Ensembl
chrX:154404073..154554648hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38149535
hg19150576
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4048970
Supporting Variants
Samples
Known GenesCLIC2, RAB39B, VBP1
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 ID12345678
Accession Number(s)nssv15990462
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00038


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