A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4204732



Internal ID20065892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24735857..25055505hg38UCSC Ensembl
chr12:24888791..25208439hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38319649
hg19319649
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv493n166
Supporting Variantsnssv15952356
Samples
Known GenesBCAT1, C12orf77, LRMP
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)nsv4204732
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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