A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4132754



Internal ID20013893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:167090323..167124568hg38UCSC Ensembl
chr6:167503811..167538056hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3834246
hg1934246
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15980167
Samples
Known GenesCCR6
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)nsv4132754
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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