A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15825491



Internal ID19897577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:66033064..66044820hg38UCSC Ensembl
chr15:66325402..66337158hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg3811757
hg1911757
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4240966
Supporting Variants
Samples
Known GenesMEGF11, MIR4311
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)nssv15825491
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000048


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