A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2575n166



Internal ID22802474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:40816640..40825372hg38UCSC Ensembl
chr8:40674159..40682891hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg388733
hg198733
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4171927, nsv4167940
Samples
Known GenesZMAT4
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)dgv2575n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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