A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16066340



Internal ID19791594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:14133787..14133788hg38UCSC Ensembl
chr6:14134018..14134019hg19UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4539963
Supporting Variants
Samples
Known GenesCD83
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)nssv16066340
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.024838


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