A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4270093



Internal ID20111455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:4158353..4366653hg38UCSC Ensembl
chr20:4139000..4347300hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38208301
hg19208301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15965904
Samples
Known GenesADRA1D, LOC728228, SMOX
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)nsv4270093
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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