A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508112



Internal ID284812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:108136125..108136195hg38UCSC Ensembl
chr11:108006852..108006922hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17049107
Samples
Known GenesACAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508112
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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