A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15940181



Internal ID20012121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:24554883..24559983hg38UCSC Ensembl
chrX:24573000..24578100hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg385101
hg195101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4043683
Supporting Variants
Samples
Known GenesPCYT1B
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)nssv15940181
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00005


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