A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5607353



Internal ID21555658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:135744411..135744411hg38UCSC Ensembl
chr2:136501981..136501981hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg382294
hg192294
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17109012
SamplesHG02587
Known GenesUBXN4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5607353
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