A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5608540



Internal ID21556845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:203166382..203166382hg38UCSC Ensembl
chr2:204031105..204031105hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17111154
SamplesHG03683
Known GenesNBEAL1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5608540
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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