A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4532239



Internal ID19915670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:2060997..2709102hg38UCSC Ensembl
chr18:2060998..2709100hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38648106
hg19648103
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15959012
Samples
Known GenesCBX3P2, METTL4, NDC80, SMCHD1
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)nsv4532239
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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