A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4493868



Internal ID20223919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:116331679..116331680hg38UCSC Ensembl
chr9:119093958..119093959hg19UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16088103
Samples
Known GenesPAPPA
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)nsv4493868
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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