A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5612594



Internal ID21560899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48502400..48502400hg38UCSC Ensembl
chr2:48729539..48729539hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17113284
SamplesHG03125
Known GenesPPP1R21
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5612594
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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