A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5650043



Internal ID21598348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117924177..117924177hg38UCSC Ensembl
chr11:117794892..117794892hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17072745
SamplesHG00732
Known GenesTMPRSS13
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5650043
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