A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15943877



Internal ID20015817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:84089642..84092494hg38UCSC Ensembl
chrX:83344650..83347502hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg382853
hg192853
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4047210
Supporting Variants
Samples
Known GenesRPS6KA6
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)nssv15943877
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000139


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