A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16089313



Internal ID20161269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:63648190..63648191hg38UCSC Ensembl
chrX:62868070..62868071hg19UCSC Ensembl
CytobandXq11.1
Allele length
AssemblyAllele length
hg38292
hg19292
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4566052
Supporting Variants
Samples
Known GenesARHGEF9
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)nssv16089313
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000739


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