A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4559438



Internal ID19942634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:124399428..124399429hg38UCSC Ensembl
chrX:123533278..123533279hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16089123
Samples
Known GenesTENM1
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)nsv4559438
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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