A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16091268



Internal ID20163212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:15910910..15911104hg38UCSC Ensembl
chr20:15891555..15891749hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4320898
Supporting Variants
Samples
Known GenesMACROD2
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)nssv16091268
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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