A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2322n166



Internal ID20167750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:17821383..18385466hg38UCSC Ensembl
chr7:17861006..18425089hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg38564084
hg19564084
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4150087, nsv4148795
Samples
Known GenesHDAC9, PRPS1L1, SNX13
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)dgv2322n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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