A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5669502



Internal ID21617808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50094219..50094219hg38UCSC Ensembl
chr20:48710756..48710756hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17116783, nssv17116784
SamplesHG00731, NA24385
Known GenesTMEM189-UBE2V1, UBE2V1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5669502
Frequency
Sample Size35
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer