A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4230779



Internal ID20431207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109912652..109924353hg38UCSC Ensembl
chr12:110350457..110362158hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg3811702
hg1911702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15950544
Samples
Known GenesTCHP
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)nsv4230779
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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