A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1747n166



Internal ID22801646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196511305..196512118hg38UCSC Ensembl
chr3:196238176..196238989hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38814
hg19814
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4108060, nsv4094030
Samples
Known GenesC3orf43
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)dgv1747n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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