A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17077504



Internal ID21476091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120990616..120990669hg38UCSC Ensembl
chr12:121428419..121428472hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5592486
Supporting Variants
SamplesHG03486
Known GenesHNF1A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17077504
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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