A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16090186



Internal ID20162142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:45366922..45367249hg38UCSC Ensembl
chr6:45334659..45334986hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4323071
Supporting Variants
Samples
Known GenesRUNX2, SUPT3H
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)nssv16090186
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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