A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16091335



Internal ID20163279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:150627309..150629477hg38UCSC Ensembl
chr4:151548461..151550629hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg382169
hg192169
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4330819
Supporting Variants
Samples
Known GenesLRBA
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)nssv16091335
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000092


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