A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443103



Internal ID221506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197561482..197726256hg38UCSC Ensembl
chr3:197288353..197453127hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38164775
hg19164775
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16943818
Samples
Known GenesBDH1, KIAA0226, LOC220729, MIR922
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443103
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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