A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv306n166



Internal ID22800205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:132840168..133020662hg38UCSC Ensembl
chr10:134653672..134834166hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38180495
hg19180495
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4199204, nsv4199976
Samples
Known GenesLOC399829, TTC40
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)dgv306n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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