A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478666



Internal ID256215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:99990222..99996222hg38UCSC Ensembl
chr8:101002450..101008450hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17016231
Samples
Known GenesRGS22
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478666
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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