A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4232372



Internal ID20085700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120432647..120451471hg38UCSC Ensembl
chr12:120870450..120889274hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3818825
hg1918825
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15950069
Samples
Known GenesCOX6A1, GATC, TRIAP1
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)nsv4232372
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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