A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4061168



Internal ID20308506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46534832..46542800hg38UCSC Ensembl
chr2:46761971..46769939hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg387969
hg197969
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15967899
Samples
Known GenesRHOQ
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)nsv4061168
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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