A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453460



Internal ID231582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197886861..198072114hg38UCSC Ensembl
chr3:197613732..197798985hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38185254
hg19185254
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16943891
Samples
Known GenesANKRD18DP, IQCG, LMLN, RPL35A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453460
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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