A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5552226



Internal ID325614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42474763..42474838hg38UCSC Ensembl
chr21:43894873..43894948hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17727060
Samples
Known GenesRSPH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5552226
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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