A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4517631



Internal ID19901061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:32108582..32674883hg38UCSC Ensembl
chrX:32126699..32693000hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg38566302
hg19566302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15987984
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 ID12345678
Accession Number(s)nsv4517631
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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