A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16090411



Internal ID19815680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:33777711..36482155hg38UCSC Ensembl
chr8:33635229..36339673hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg382704445
hg192704445
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4323300
Supporting Variants
Samples
Known GenesUNC5D
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)nssv16090411
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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