A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4140881



Internal ID20019802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:167264979..167803507hg38UCSC Ensembl
chr6:167678467..168204187hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38538529
hg19525721
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2246n166
Supporting Variantsnssv15980176
Samples
Known GenesC6orf123, TCP10, TTLL2, UNC93A
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 ID12345678
Accession Number(s)nsv4140881
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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