A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15982327



Internal ID20054267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:12216317..12216318hg38UCSC Ensembl
chr11:12237864..12237865hg19UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg381238
hg191238
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4575241
Supporting Variants
Samples
Known GenesMICAL2
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)nssv15982327
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000277


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