A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv827n166



Internal ID20166255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:98930010..99483500hg38UCSC Ensembl
chr15:99473239..100023705hg19UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38553491
hg19550467
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4245232, nsv4236792
Samples
Known GenesHSP90B2P, IGF1R, LRRC28, PGPEP1L, SYNM, TTC23
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)dgv827n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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