A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5485206



Internal ID262602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:141297436..141359662hg38UCSC Ensembl
chr8:142307535..142369762hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3862227
hg1962228
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17019153
Samples
Known GenesGPR20, LOC731779
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5485206
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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