A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15988816



Internal ID19714070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:48664611..48681611hg38UCSC Ensembl
chrX:48523000..48540000hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3817001
hg1917001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4043896
Supporting Variants
Samples
Known Genes
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)nssv15988816
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000047


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