A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2893n166



Internal ID20168321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:66019853..66680174hg38UCSC Ensembl
chrX:65239695..65900016hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg38660322
hg19660322
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4050429, nsv4051019
Samples
Known GenesEDA2R, HEPH, VSIG4
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)dgv2893n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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