A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4125407



Internal ID20355379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:146303410..146346147hg38UCSC Ensembl
chr5:145682973..145725710hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3842738
hg1942738
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15976939
Samples
Known GenesPOU4F3
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)nsv4125407
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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