A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15989169



Internal ID20061112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:92014668..92640702hg38UCSC Ensembl
chrX:91269667..91895701hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg38626035
hg19626035
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4039853
Supporting Variants
Samples
Known GenesPCDH11X
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)nssv15989169
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000048


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