A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4252725



Internal ID20445997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48427048..48458948hg38UCSC Ensembl
chr19:48930305..48962205hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3831901
hg1931901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15962336
Samples
Known GenesGRIN2D, GRWD1, KCNJ14
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)nsv4252725
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