A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5619529



Internal ID21567834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208023306..208023306hg38UCSC Ensembl
chr2:208888030..208888030hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17111069
SamplesNA19239
Known GenesPLEKHM3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5619529
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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