A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452124



Internal ID230285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:97293347..97293439hg38UCSC Ensembl
chr3:97012191..97012283hg19UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16937048
Samples
Known GenesEPHA6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452124
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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