A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4049929



Internal ID20175708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:138953016..138956136hg38UCSC Ensembl
chrX:138035178..138038298hg19UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg383121
hg193121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15948411
Samples
Known GenesFGF13
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)nsv4049929
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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