A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4312526



Internal ID20184465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:121492193..121886685hg38UCSC Ensembl
chr3:121211040..121605532hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38394493
hg19394493
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16091188
Samples
Known GenesARGFX, EAF2, FBXO40, GOLGB1, HCLS1, IQCB1, POLQ
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)nsv4312526
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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