A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16091246



Internal ID20163190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:6755043..9004740hg38UCSC Ensembl
chr11:6776274..9026287hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg382249698
hg192250014
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4565647
Supporting Variants
Samples
Known GenesAKIP1, ASCL3, C11orf16, CYB5R2, EIF3F, LMO1, LOC100506258, LOC283299, NLRP10, NLRP14, NRIP3, OLFML1, OR10A2, OR10A3, OR10A4, OR10A5, OR10A6, OR2AG1, OR2AG2, OR2D2, OR2D3, OR5E1P, OR5P2, OR5P3, OR6A2, OVCH2, PPFIBP2, RBMXL2, RIC3, RPL27A, SNORA3, SNORA45, ST5, STK33, SYT9, TMEM9B, TMEM9B-AS1, TRIM66, TUB, ZNF214, ZNF215
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)nssv16091246
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000092


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