A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16063399



Internal ID20135355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:111688878..111688879hg38UCSC Ensembl
chr5:111024575..111024576hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg383745
hg193745
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4547055
Supporting Variants
Samples
Known GenesSTARD4-AS1
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)nssv16063399
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000138


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