A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15972784



Internal ID20044724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:119027553..119037952hg38UCSC Ensembl
chr4:119948708..119959107hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg3810400
hg1910400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4100080
Supporting Variants
Samples
Known GenesSYNPO2
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)nssv15972784
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer