A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4193138



Internal ID20404190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:555919..608928hg38UCSC Ensembl
chr12:665085..718094hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3853010
hg1953010
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15951775
Samples
Known GenesB4GALNT3, NINJ2
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)nsv4193138
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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