A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4258601



Internal ID20450106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41550880..41670990hg38UCSC Ensembl
chr19:42057248..42174918hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38120111
hg19117671
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15959889
Samples
Known GenesCEACAM21, CEACAM4
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)nsv4258601
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