A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17108125



Internal ID21463954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:120183031..120183114hg38UCSC Ensembl
chr2:120940607..120940690hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5583053
Supporting Variants
SamplesHG03065
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17108125
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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