A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4573065



Internal ID20302940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:160032311..160032312hg38UCSC Ensembl
chr3:159750098..159750099hg19UCSC Ensembl
Cytoband3q25.33
Allele length
AssemblyAllele length
hg38703
hg19703
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16050299
Samples
Known GenesIL12A-AS1
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)nsv4573065
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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