A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4134058



Internal ID20014845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:41788930..41793449hg38UCSC Ensembl
chr6:41756668..41761187hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg384520
hg194520
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15978825
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)nsv4134058
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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