A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4254014



Internal ID20446904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:3848391..3859039hg38UCSC Ensembl
chr20:3829038..3839686hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3810649
hg1910649
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1414n166
Supporting Variantsnssv15856512
Samples
Known GenesMAVS
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 ID32461652
Accession Number(s)nsv4254014
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer