A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5560248



Internal ID333260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:4414034..4414085hg38UCSC Ensembl
chr20:4394681..4394732hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38789
hg19789
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17730500
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5560248
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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