A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15786264



Internal ID19511584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49528397..49600897hg38UCSC Ensembl
chrX:49293000..49365500hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3872501
hg1972501
Variant TypeOTHER copy number variation
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4052117
Supporting Variants
Samples
Known GenesGAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE2A, GAGE2C, GAGE2E, GAGE6, GAGE8
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)nssv15786264
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.001852


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