A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2743n166



Internal ID20168171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:21803002..21803064hg38UCSC Ensembl
chr9:21803001..21803063hg19UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4184753, nsv4185493
Samples
Known GenesMTAP
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)dgv2743n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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