A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4470248



Internal ID20200242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:170242972..170242973hg38UCSC Ensembl
chr3:169960760..169960761hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16052009
Samples
Known GenesPRKCI
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)nsv4470248
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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