A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15988099



Internal ID20060040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:13878744..14252669hg38UCSC Ensembl
chrX:13896863..14270791hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38373926
hg19373929
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4044797
Supporting Variants
Samples
Known GenesGEMIN8, GPM6B
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)nssv15988099
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000095


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