A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4154346



Internal ID20376242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:138479838..138486056hg38UCSC Ensembl
chr7:138164583..138170801hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg386219
hg196219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15925926
Samples
Known GenesTRIM24
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)nsv4154346
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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