A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2410n166



Internal ID22802309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:108950242..109010422hg38UCSC Ensembl
chr7:108590299..108650479hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3860181
hg1960181
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4170322, nsv4162164
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)dgv2410n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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