A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16015979



Internal ID20087935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:14174935..14174936hg38UCSC Ensembl
chr16:14268792..14268793hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg383480
hg193480
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4570522
Supporting Variants
Samples
Known GenesMKL2
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 ID32461652
Accession Number(s)nssv16015979
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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