A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4569392



Internal ID20299273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:132667716..132667717hg38UCSC Ensembl
chr3:132386560..132386561hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg381345
hg191345
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16049296
Samples
Known GenesNPHP3-ACAD11, UBA5
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)nsv4569392
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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