A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4043541



Internal ID20171253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:1859941..1941834hg38UCSC Ensembl
chrX:1978834..2060727hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3881894
hg1981894
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2853n166
Supporting Variantsnssv15988081
Samples
Known Genes
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)nsv4043541
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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