A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4106560



Internal ID20341933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196500752..196509203hg38UCSC Ensembl
chr3:196227623..196236074hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg388452
hg198452
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15970504
Samples
Known GenesC3orf43, RNF168
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)nsv4106560
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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