A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv826n166



Internal ID22800725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:97517430..97559882hg38UCSC Ensembl
chr15:98060660..98103112hg19UCSC Ensembl
Cytoband15q26.2
Allele length
AssemblyAllele length
hg3842453
hg1942453
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4235305, nsv4248191
Samples
Known Genes
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)dgv826n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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