A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4046517



Internal ID19826707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:84864948..85034472hg38UCSC Ensembl
chrX:84119954..84289478hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38169525
hg19169525
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15989661
Samples
Known GenesAPOOL, UBE2DNL
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)nsv4046517
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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