A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4148285



Internal ID20371852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:1824031..1844362hg38UCSC Ensembl
chr7:1863667..1883998hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3820332
hg1920332
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15979862
Samples
Known GenesMAD1L1, MIR4655
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)nsv4148285
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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