A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4261106



Internal ID20451867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81652345..81669676hg38UCSC Ensembl
chr17:79619375..79636706hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3817332
hg1917332
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15958656
Samples
Known GenesCCDC137, OXLD1, PDE6G
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)nsv4261106
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