A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5486214



Internal ID263584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28510163..28510218hg38UCSC Ensembl
chr8:28367680..28367735hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17010158
Samples
Known GenesFZD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5486214
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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