A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15941233



Internal ID20013173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:1506107..1573107hg38UCSC Ensembl
chrX:1625000..1692000hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3867001
hg1967001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4035173
Supporting Variants
Samples
Known GenesP2RY8
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)nssv15941233
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00005


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