A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4565396



Internal ID20295284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:135440108..135454001hg38UCSC Ensembl
chr7:135124856..135138749hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg3813894
hg1913894
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15791237
Samples
Known GenesCNOT4
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4565396
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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