A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5624243



Internal ID21572548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133384323..133384323hg38UCSC Ensembl
chr3:133103167..133103167hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17137630
SamplesHG03683
Known GenesTMEM108
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5624243
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer