A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448642



Internal ID226909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:124745633..124745710hg38UCSC Ensembl
chr3:124464480..124464557hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16938139
Samples
Known GenesUMPS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448642
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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