A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4041813



Internal ID20170045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:105538204..105596458hg38UCSC Ensembl
chrX:104782197..104840451hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg3858255
hg1958255
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15988692
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)nsv4041813
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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