A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1102n166



Internal ID20166530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:723480..804663hg38UCSC Ensembl
chr19:723480..804663hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3881184
hg1981184
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4255952, nsv4270630
Samples
Known GenesMISP, PALM, PTBP1
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)dgv1102n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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