A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16088016



Internal ID20159972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:13908973..13908974hg38UCSC Ensembl
chrX:13927092..13927093hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4576338
Supporting Variants
Samples
Known GenesGPM6B
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)nssv16088016
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000231


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer