A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2093n166



Internal ID20167521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:464046..866915hg38UCSC Ensembl
chr6:464046..866915hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38402870
hg19402870
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4120944, nsv4123693
Samples
Known GenesEXOC2, HUS1B
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)dgv2093n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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