A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4057812



Internal ID19834746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150346982..150367809hg38UCSC Ensembl
chr1:150319458..150340285hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3820828
hg1920828
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15963295
Samples
Known GenesPRPF3, RPRD2
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)nsv4057812
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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