A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16090812



Internal ID20162767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:20061787..21405902hg38UCSC Ensembl
chr13:20635927..21980041hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg381344116
hg191344115
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4332423
Supporting Variants
Samples
Known GenesCRYL1, GJA3, GJB2, GJB6, IFT88, IL17D, LATS2, LINC00367, LINC00539, MIPEPP3, MIR4499, MRP63, N6AMT2, SAP18, SKA3, XPO4, ZDHHC20, ZMYM2
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)nssv16090812
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000092


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