A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5615054



Internal ID21563359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48829590..48829590hg38UCSC Ensembl
chr3:48867023..48867023hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17120910
SamplesHG00731
Known GenesPRKAR2A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5615054
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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