A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4207462



Internal ID20414578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43873065..44218231hg38UCSC Ensembl
chr12:44266868..44612014hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38345167
hg19345147
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15949731
Samples
Known GenesTMEM117
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)nsv4207462
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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