A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4558630



Internal ID20288511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:99339391..99339392hg38UCSC Ensembl
chr2:99955854..99955855hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38496
hg19496
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16039368
Samples
Known GenesEIF5B
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)nsv4558630
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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