A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2289n166



Internal ID20167717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:5775846..5909160hg38UCSC Ensembl
chr7:5815477..5948791hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38133315
hg19133315
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4141817, nsv4136009
Samples
Known GenesCCZ1, OCM, RNF216, ZNF815P
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)dgv2289n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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