A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2924n166



Internal ID20168352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:118368979..118369628hg38UCSC Ensembl
chrX:117502942..117503591hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38650
hg19650
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4040160, nsv4050904
Samples
Known GenesWDR44
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)dgv2924n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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