A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5441143



Internal ID219625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:229691957..229772087hg38UCSC Ensembl
chr2:230556673..230636803hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3880131
hg1980131
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925018
Samples
Known GenesDNER, TRIP12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5441143
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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