A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469103



Internal ID246896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:124416119..124451559hg38UCSC Ensembl
chr4:125337274..125372714hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg3835441
hg1935441
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16954692
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469103
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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