A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15959033



Internal ID20030973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3859737..3896233hg38UCSC Ensembl
chr18:3859737..3896233hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3836497
hg1936497
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4260521
Supporting Variants
Samples
Known GenesDLGAP1, DLGAP1-AS3, MIR6718
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)nssv15959033
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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