A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17116784



Internal ID21512471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50094219..50094219hg38UCSC Ensembl
chr20:48710756..48710756hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5669502
Supporting Variants
SamplesNA24385
Known GenesTMEM189-UBE2V1, UBE2V1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17116784
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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