A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5489241



Internal ID266530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27275976..27445064hg38UCSC Ensembl
chr8:27133493..27302581hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38169089
hg19169089
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17010062
Samples
Known GenesMIR6842, PTK2B, TRIM35
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5489241
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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