A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4242676



Internal ID20092593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:89843512..89852835hg38UCSC Ensembl
chr15:90386744..90396067hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg389324
hg199324
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15953400
Samples
Known GenesAP3S2, C15orf38-AP3S2, MIR5094
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)nsv4242676
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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