A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16091203



Internal ID20163147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:175244327..175589341hg38UCSC Ensembl
chr3:174962116..175307129hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38345015
hg19345014
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4318158
Supporting Variants
Samples
Known GenesMIR4789, MIR548AY, NAALADL2
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 ID32461652
Accession Number(s)nssv16091203
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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