A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4098677



Internal ID19989387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197029964..197067643hg38UCSC Ensembl
chr3:196756835..196794514hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3837680
hg1937680
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15970522
Samples
Known GenesDLG1
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)nsv4098677
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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