A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16090803



Internal ID19816072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106237688..106398322hg38UCSC Ensembl
chr12:106631466..106792100hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38160635
hg19160635
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4321742
Supporting Variants
Samples
Known GenesCKAP4, POLR3B, TCP11L2
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)nssv16090803
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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