A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15979146



Internal ID19704400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:111087974..111099118hg38UCSC Ensembl
chr6:111409177..111420321hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3811145
hg1911145
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4144855
Supporting Variants
Samples
Known GenesSLC16A10
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)nssv15979146
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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