A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5623685



Internal ID21571990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:30626697..30626697hg38UCSC Ensembl
chr3:30668189..30668189hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg382499
hg192499
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17137883
SamplesHG01596
Known GenesTGFBR2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5623685
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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