A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4043460



Internal ID20171198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:105144380..105149948hg38UCSC Ensembl
chrX:104389063..104394631hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg385569
hg195569
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15943660
Samples
Known GenesIL1RAPL2
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 ID32461652
Accession Number(s)nsv4043460
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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