A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15989351



Internal ID19714605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:130380418..130595560hg38UCSC Ensembl
chrX:129514392..129729534hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg38215143
hg19215143
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4037703
Supporting Variants
Samples
Known GenesFAM45B, GPR119, RBMX2
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)nssv15989351
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000048


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