A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4108796



Internal ID20343579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:105706501..105710505hg38UCSC Ensembl
chr4:106627658..106631662hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg384005
hg194005
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15973744
Samples
Known GenesGSTCD, INTS12
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)nsv4108796
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