A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4120680



Internal ID20005424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:171207129..171524655hg38UCSC Ensembl
chr5:170634133..170951659hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38317527
hg19317527
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15977768
Samples
Known GenesFGF18, MIR3912, NPM1, RANBP17, TLX3
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)nsv4120680
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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