A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453856



Internal ID231967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:192130728..192136020hg38UCSC Ensembl
chr2:192995454..193000746hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg385293
hg195293
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922075
Samples
Known GenesTMEFF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453856
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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