A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1749n166



Internal ID22801648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196791414..196926565hg38UCSC Ensembl
chr3:196518285..196653436hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38135152
hg19135152
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4095819, nsv4099303
Samples
Known GenesPAK2, SENP5
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)dgv1749n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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