A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2639n166



Internal ID20168067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124477759..124483243hg38UCSC Ensembl
chr8:125490000..125495484hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg385485
hg195485
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4158228, nsv4156497, nsv4168811
Samples
Known GenesRNF139
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)dgv2639n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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