A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1861n166



Internal ID20167289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:122770078..123136954hg38UCSC Ensembl
chr4:123691233..124058109hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg38366877
hg19366877
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4092509, nsv4520922
Samples
Known GenesFGF2, NUDT6, SPATA5
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)dgv1861n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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