A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16088596



Internal ID19813866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:14899114..14899115hg38UCSC Ensembl
chrX:14917236..14917237hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4536295
Supporting Variants
Samples
Known GenesMOSPD2
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 ID12345678
Accession Number(s)nssv16088596
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.115225


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