A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2703n166



Internal ID22802602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:11672244..12145419hg38UCSC Ensembl
chr9:11672244..12145419hg19UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg38473176
hg19473176
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4179378, nsv4177744, nsv4187127, nsv4183809
Samples
Known Genes
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)dgv2703n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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