A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4284949



Internal ID20118582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:25453191..25613233hg38UCSC Ensembl
chr20:25433827..25593869hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38160043
hg19160043
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15963928
Samples
Known GenesNANP, NINL
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)nsv4284949
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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