A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv785n166



Internal ID22800684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:41244802..41249802hg38UCSC Ensembl
chr15:41537000..41542000hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg385001
hg195001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4233760, nsv4240516
Samples
Known GenesCHP1
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)dgv785n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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