A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16090129



Internal ID19815399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51092205..51354493hg38UCSC Ensembl
chr1:51557877..51820165hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38262289
hg19262289
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4314383
Supporting Variants
Samples
Known GenesC1orf185, EPS15, RNF11, TTC39A
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)nssv16090129
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