A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512748



Internal ID289296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:119064724..119064781hg38UCSC Ensembl
chr10:120824236..120824293hg19UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17039305
Samples
Known GenesEIF3A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512748
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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