A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4052117



Internal ID19830638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49528397..49600897hg38UCSC Ensembl
chrX:49293000..49365500hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3872501
hg1972501
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15786267, nssv15786271, nssv15786265, nssv15786273, nssv15786266, nssv15786275, nssv15786272, nssv15786270, nssv15786269, nssv15786276, nssv15786268, nssv15786274, nssv15786264
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)nsv4052117
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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