A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5621148



Internal ID21569453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:181406960..181406960hg38UCSC Ensembl
chr3:181124748..181124748hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17135476
SamplesHG03486
Known GenesSOX2-OT
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5621148
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