A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17128477



Internal ID21443790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1273366..1273366hg38UCSC Ensembl
chr5:1273481..1273481hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5627044
Supporting Variants
SamplesHG00732
Known GenesTERT
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17128477
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