A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4040720



Internal ID20169285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:119435637..119441337hg38UCSC Ensembl
chrX:118569600..118575300hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg385701
hg195701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15989286
Samples
Known GenesSLC25A43
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)nsv4040720
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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