A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5411967



Internal ID191271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200634361..200634412hg38UCSC Ensembl
chr2:201499084..201499135hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922843
Samples
Known GenesAOX1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5411967
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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