A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1207n166



Internal ID22801106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:56896221..56907631hg38UCSC Ensembl
chr19:57407589..57418999hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg3811411
hg1911411
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4270550, nsv4267759
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)dgv1207n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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