A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15942320



Internal ID20014260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:32412261..32413519hg38UCSC Ensembl
chrX:32430378..32431636hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg381259
hg191259
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4044821
Supporting Variants
Samples
Known GenesDMD
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)nssv15942320
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001155


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