A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16091178



Internal ID19816436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:81796710..90088646hg38UCSC Ensembl
chr3:81845861..90137796hg19UCSC Ensembl
Cytoband3p11.1
Allele length
AssemblyAllele length
hg388291937
hg198291936
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4568251
Supporting Variants
Samples
Known GenesC3orf38, CADM2, CADM2-AS2, CGGBP1, CHMP2B, EPHA3, HTR1F, LINC00506, LINC00971, MIR4795, MIR5688, POU1F1, RNU6-69P, VGLL3, ZNF654
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)nssv16091178
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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