A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4471812



Internal ID20201810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:62277182..62277183hg38UCSC Ensembl
chr3:62262857..62262858hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg38253
hg19253
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16046590
Samples
Known GenesPTPRG, PTPRG-AS1
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)nsv4471812
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