A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15952412



Internal ID20024352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29661461..29668474hg38UCSC Ensembl
chr12:29814394..29821407hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg387014
hg197014
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4201821
Supporting Variants
Samples
Known GenesTMTC1
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)nssv15952412
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer