A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17116786



Internal ID21505616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50103741..50103741hg38UCSC Ensembl
chr20:48720278..48720278hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg381559
hg191559
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5664793
Supporting Variants
SamplesNA19650
Known GenesTMEM189-UBE2V1, UBE2V1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17116786
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