A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1232n166



Internal ID20166660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:8744374..8744434hg38UCSC Ensembl
chr2:8884504..8884564hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4068927, nsv4519152, nsv4519969, nsv4518627, nsv4070135
Samples
Known GenesKIDINS220
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)dgv1232n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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