A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5612219



Internal ID21560524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:29547617..29547617hg38UCSC Ensembl
chr3:29589108..29589108hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg38819
hg19819
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17137016
SamplesHG03683
Known GenesRBMS3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5612219
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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