A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv36n166



Internal ID22799935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:21907943..21992809hg38UCSC Ensembl
chr1:22234436..22319302hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3884867
hg1984867
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4033213, nsv4041648
Samples
Known GenesCELA3B, HSPG2
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)dgv36n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer