A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15979119



Internal ID19704373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:108344056..108357102hg38UCSC Ensembl
chr6:108665260..108678306hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3813047
hg1913047
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4149965
Supporting Variants
Samples
Known GenesLACE1
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)nssv15979119
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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