A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4520046



Internal ID19903476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:108636543..108725544hg38UCSC Ensembl
chr2:109252999..109342000hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg3889002
hg1989002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15968786
Samples
Known GenesLIMS1, RANBP2
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)nsv4520046
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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