A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4064730



Internal ID19964408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:99359774..99466408hg38UCSC Ensembl
chr2:99976237..100082870hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38106635
hg19106634
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15969693
Samples
Known GenesEIF5B, REV1
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)nsv4064730
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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