A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4147590



Internal ID20024655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:41789077..41791389hg38UCSC Ensembl
chr6:41756815..41759127hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg382313
hg192313
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15978826
Samples
Known GenesTOMM6, USP49
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)nsv4147590
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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