A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4193032



Internal ID20057428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46606399..46630238hg38UCSC Ensembl
chr11:46627949..46651788hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3823840
hg1923840
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15950345
Samples
Known GenesATG13, HARBI1
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)nsv4193032
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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