A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2788n166



Internal ID20168216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:114978647..115842989hg38UCSC Ensembl
chr9:117740927..118605268hg19UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg38864343
hg19864342
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4184165, nsv4191608
Samples
Known GenesDEC1, TNC
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 ID12345678
Accession Number(s)dgv2788n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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