A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16090827



Internal ID19816096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:70633714..72604175hg38UCSC Ensembl
chr13:71207846..73178313hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg381970462
hg191970468
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4319065
Supporting Variants
Samples
Known GenesDACH1, LINC00348
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)nssv16090827
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer