A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4133678



Internal ID20014575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:79445949..79457875hg38UCSC Ensembl
chr7:79075265..79087191hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3811927
hg1911927
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15981573
Samples
Known GenesMAGI2, MAGI2-AS3
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 ID12345678
Accession Number(s)nsv4133678
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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