A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4049691



Internal ID19828921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:13317904..13319139hg38UCSC Ensembl
chrX:13336023..13337258hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg381236
hg191236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15940104
Samples
Known GenesATXN3L, LOC100093698
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)nsv4049691
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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