A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4086620



Internal ID19980446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:229789090..229972934hg38UCSC Ensembl
chr2:230653806..230837650hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38183845
hg19183845
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1378n166
Supporting Variantsnssv15969046
Samples
Known GenesFBXO36, TRIP12
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)nsv4086620
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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