A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443298



Internal ID221698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:219268247..219269474hg38UCSC Ensembl
chr2:220132969..220134196hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg381228
hg191228
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925992
Samples
Known GenesTUBA4B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443298
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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