A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4110910



Internal ID20345150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:38522415..38556011hg38UCSC Ensembl
chr4:38524036..38557632hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3833597
hg1933597
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1804n166
Supporting Variantsnssv15973437
Samples
Known Genes
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)nsv4110910
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