A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4264502



Internal ID20454235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:47031538..47048249hg38UCSC Ensembl
chr18:44557909..44574620hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3816712
hg1916712
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15960660
Samples
Known GenesKATNAL2, TCEB3B
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)nsv4264502
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