A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453710



Internal ID231824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129026309..129035055hg38UCSC Ensembl
chr3:128745152..128753898hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg388747
hg198747
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16939120
Samples
Known GenesEFCC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453710
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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