A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4262510



Internal ID20452840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:44695630..44700730hg38UCSC Ensembl
chr19:45198900..45204000hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg385101
hg195101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1179n166
Supporting Variantsnssv15961847
Samples
Known GenesCEACAM16
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)nsv4262510
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