A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5581589



Internal ID21530090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101468991..101469040hg38UCSC Ensembl
chr2:102085453..102085502hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17107788
SamplesNA19238
Known GenesRFX8
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5581589
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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