A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15786214



Internal ID19511533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49324094..49330719hg38UCSC Ensembl
chrX:49190100..49196700hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg386626
hg196601
Variant TypeOTHER copy number variation
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4043440
Supporting Variants
Samples
Known GenesGAGE13, GAGE2E, 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)nssv15786214
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.670692


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