A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4125009



Internal ID20355092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:35878796..35888194hg38UCSC Ensembl
chr5:35878898..35888296hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg389399
hg199399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15975841
Samples
Known GenesIL7R
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)nsv4125009
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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