A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451225



Internal ID229411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43261930..43261996hg38UCSC Ensembl
chr2:43489069..43489135hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911665
Samples
Known GenesTHADA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451225
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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