A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2858n166



Internal ID22802757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:4046185..4319604hg38UCSC Ensembl
chrX:3964226..4237645hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38273420
hg19273420
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4049207, nsv4041290
Samples
Known Genes
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)dgv2858n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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