A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4230965



Internal ID20431343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130349974..130401578hg38UCSC Ensembl
chr12:130834519..130886123hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3851605
hg1951605
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv588n166
Supporting Variantsnssv15950136
Samples
Known GenesPIWIL1, RIMBP2
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)nsv4230965
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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