A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2135n166



Internal ID22802034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:65106998..65219649hg38UCSC Ensembl
chr6:65816891..65929542hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg38112652
hg19112652
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4148813, nsv4150191, nsv4146061
Samples
Known GenesEYS
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)dgv2135n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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