A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16091163



Internal ID19816421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:28107660..29033045hg38UCSC Ensembl
chr3:28149151..29074536hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg38925386
hg19925386
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4332147
Supporting Variants
Samples
Known GenesAZI2, CMC1, LINC00693, ZCWPW2
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)nssv16091163
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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