A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16058327



Internal ID20130283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:153237694..153237695hg38UCSC Ensembl
chr4:154158846..154158847hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg381261
hg191261
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4561365
Supporting Variants
Samples
Known GenesTRIM2
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)nssv16058327
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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