A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558282



Internal ID331351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134865799..134865850hg38UCSC Ensembl
chr5:134201489..134201540hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg381288
hg191288
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975076
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558282
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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