A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4096132



Internal ID20334174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:113494532..113536319hg38UCSC Ensembl
chr4:114415688..114457475hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg3841788
hg1941788
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15894992
Samples
Known GenesCAMK2D
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)nsv4096132
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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