A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443384



Internal ID221784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:99698772..99719575hg38UCSC Ensembl
chr2:100315234..100336037hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3820804
hg1920804
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16918532
Samples
Known GenesAFF3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443384
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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