A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4183126



Internal ID20396995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46368783..46388443hg38UCSC Ensembl
chr10:47740000..47759700hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3819661
hg1919701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15947928
Samples
Known GenesANXA8L1, ANXA8L2, FAM25B
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)nsv4183126
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