A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6255308



Internal ID22059918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:127895480..127895480hg38UCSC Ensembl
chr4:128816635..128816635hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17857581
Samples
Known GenesPLK4
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6255308
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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