A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4038358



Internal ID19821007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:1269348..1387144hg38UCSC Ensembl
chrX:1388241..1506037hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38117797
hg19117797
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2839n166
Supporting Variantsnssv15986706
Samples
Known GenesCSF2RA, IL3RA, MIR3690, MIR3690-2, SLC25A6
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)nsv4038358
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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