A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4041916



Internal ID19823460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:151905528..151914528hg38UCSC Ensembl
chrX:151074000..151083000hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg389001
hg199001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15990046
Samples
Known GenesMAGEA4
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)nsv4041916
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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