A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15953168



Internal ID20025108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56406700..56408586hg38UCSC Ensembl
chr12:56800484..56802370hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg381887
hg191887
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4204199
Supporting Variants
Samples
Known Genes
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)nssv15953168
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