A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2804n166



Internal ID22802703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:129855203..130051602hg38UCSC Ensembl
chr9:132617482..132813881hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38196400
hg19196400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4189803, nsv4178856
Samples
Known GenesFNBP1, MIR6855, USP20
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)dgv2804n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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