A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448424



Internal ID226700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238369579..238382525hg38UCSC Ensembl
chr2:239278220..239291166hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3812947
hg1912947
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16927093
Samples
Known GenesTRAF3IP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448424
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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