A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4130653



Internal ID20359094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:81283180..81283301hg38UCSC Ensembl
chr5:80578999..80579120hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15977408
Samples
Known GenesCKMT2-AS1, RNU5D-1, RNU5E-1
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)nsv4130653
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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