A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17088132



Internal ID21464972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93430964..93435342hg38UCSC Ensembl
chr12:93824740..93829118hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg384379
hg194379
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5590589
Supporting Variants
SamplesHG03065
Known GenesUBE2N
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17088132
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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