A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv145n97



Internal ID22815542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80622528..80641024hg38UCSC Ensembl
chr17:78596328..78614824hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3818497
hg1918497
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1155498, nsv1155497
Samples
Known GenesRPTOR
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)dgv145n97
Frequency
Sample Size131
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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