A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445416



Internal ID223765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:171214161..171216359hg38UCSC Ensembl
chr2:172070671..172072869hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg382199
hg192199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16926828
Samples
Known GenesTLK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445416
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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