A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4142464



Internal ID20367633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:125954864..125998457hg38UCSC Ensembl
chr6:126276010..126319603hg19UCSC Ensembl
Cytoband6q22.32
Allele length
AssemblyAllele length
hg3843594
hg1943594
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15979203
Samples
Known GenesHINT3, TRMT11
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)nsv4142464
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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