A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4571199



Internal ID20301078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112912649..112912650hg38UCSC Ensembl
chr5:112248346..112248347hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16064000
Samples
Known GenesREEP5
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)nsv4571199
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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