A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480888



Internal ID258385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:26789360..26789424hg38UCSC Ensembl
chr8:26646877..26646941hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17059067
Samples
Known GenesADRA1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480888
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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