A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4270340



Internal ID20111628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58921890..59841950hg38UCSC Ensembl
chr18:56589122..57509182hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38920061
hg19920061
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15960309
Samples
Known GenesCCBE1, CPLX4, GRP, LMAN1, OACYLP, RAX, SEC11C, ZNF532
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)nsv4270340
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