A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5646372



Internal ID21594677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24108975..24108975hg38UCSC Ensembl
chr16:24120296..24120296hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17097800
SamplesHG00731
Known GenesPRKCB
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5646372
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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