A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16000943



Internal ID19726197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54555399..54555400hg38UCSC Ensembl
chr12:54949183..54949184hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg38474
hg19474
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4563141
Supporting Variants
Samples
Known GenesPDE1B
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)nssv16000943
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000138


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