A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4058917



Internal ID19835540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:15254784..15261528hg38UCSC Ensembl
chr2:15394908..15401652hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg386745
hg196745
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15967151
Samples
Known GenesNBAS
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)nsv4058917
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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