A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2846n166



Internal ID20168274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:1575385..2343393hg38UCSC Ensembl
chrX:1694278..2261434hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38768009
hg19567157
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4039160, nsv4034322
Samples
Known GenesAKAP17A, ASMT, DHRSX
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)dgv2846n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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