A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4266655



Internal ID20455737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:19903978..20219996hg38UCSC Ensembl
chr19:20014787..20330805hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38316019
hg19316019
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15960853
Samples
Known GenesZNF486, ZNF682, ZNF90, ZNF93
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)nsv4266655
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