A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4133046



Internal ID20360800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:83439683..83461144hg38UCSC Ensembl
chr7:83068999..83090460hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3821462
hg1921462
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15981099
Samples
Known GenesSEMA3E
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)nsv4133046
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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