A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4517916



Internal ID20248035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:18310732..18317560hg38UCSC Ensembl
chrX:18328852..18335680hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg386829
hg196829
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15941599
Samples
Known GenesSCML2
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)nsv4517916
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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