A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4480599



Internal ID20210639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115619349..115619350hg38UCSC Ensembl
chr5:114955046..114955047hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16063595
Samples
Known GenesTMED7, TMED7-TICAM2
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)nsv4480599
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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