A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16091204



Internal ID19816462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:178904535..179542179hg38UCSC Ensembl
chr3:178622323..179259967hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg38637645
hg19637645
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4323046
Supporting Variants
Samples
Known GenesGNB4, KCNMB3, MFN1, PIK3CA, ZMAT3, ZNF639
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)nssv16091204
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000092


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