A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4170904



Internal ID20041630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48708380..49699549hg38UCSC Ensembl
chr8:49620939..50612109hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38991170
hg19991171
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15984152
Samples
Known GenesC8orf22, EFCAB1, SNAI2
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 ID12345678
Accession Number(s)nsv4170904
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