A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5645991



Internal ID21594296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:45645619..45645619hg38UCSC Ensembl
chr18:43225584..43225584hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17101439
SamplesHG00732
Known GenesSLC14A2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5645991
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