A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15975146



Internal ID20047086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:188125846..189233346hg38UCSC Ensembl
chr4:189047000..190154500hg19UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg381107501
hg191107501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4113189
Supporting Variants
Samples
Known GenesLINC01060, TRIML1
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)nssv15975146
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000277


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