A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2278n166



Internal ID22802177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:3376335..3582088hg38UCSC Ensembl
chr7:3415967..3621720hg19UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg38205754
hg19205754
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4147315, nsv4137598
Samples
Known GenesSDK1
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)dgv2278n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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