A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4206281



Internal ID20413713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:94165976..94175251hg38UCSC Ensembl
chr11:93899142..93908417hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg389276
hg199276
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv425n166
Supporting Variantsnssv15805403
Samples
Known GenesPANX1
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)nsv4206281
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