A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv865n166



Internal ID20166293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:8635160..8872247hg38UCSC Ensembl
chr16:8729017..8966104hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38237088
hg19237088
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4235630, nsv4238935
Samples
Known GenesABAT, CARHSP1, METTL22, PMM2, TMEM186
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)dgv865n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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