A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17136849



Internal ID21509541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:171019129..171019129hg38UCSC Ensembl
chr3:170736918..170736918hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5613089
Supporting Variants
SamplesNA20847
Known GenesSLC2A2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17136849
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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