A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16047345



Internal ID20119301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:73590318..73590319hg38UCSC Ensembl
chr3:73639469..73639470hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg38600
hg19600
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4568820
Supporting Variants
Samples
Known GenesPDZRN3
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)nssv16047345
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002776


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