A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4558990



Internal ID19942186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:112088294..112088295hg38UCSC Ensembl
chr3:111807141..111807142hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg385416
hg195416
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16048527
Samples
Known GenesC3orf52
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)nsv4558990
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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