A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4316121



Internal ID20184694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:13587226..13587291hg38UCSC Ensembl
chr12:13740160..13740225hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16090777
Samples
Known GenesGRIN2B
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)nsv4316121
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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