A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15987798



Internal ID19713052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:15913411..16533949hg38UCSC Ensembl
chrX:15931534..16552072hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38620539
hg19620539
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4035691
Supporting Variants
Samples
Known GenesGRPR, MAGEB17
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)nssv15987798
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000048


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