A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1145n166



Internal ID22801044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:27639091..27971572hg38UCSC Ensembl
chr19:28129999..28462480hg19UCSC Ensembl
Cytoband19q11
Allele length
AssemblyAllele length
hg38332482
hg19332482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4537763, nsv4263660
Samples
Known GenesLINC00662
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)dgv1145n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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