A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17119164



Internal ID21496210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42432404..42432404hg38UCSC Ensembl
chr21:43852513..43852513hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38202
hg19202
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5665126
Supporting Variants
SamplesNA19238
Known GenesUBASH3A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17119164
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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