A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5524n54



Internal ID20138948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32485827..32487513hg38UCSC Ensembl
chr17:30812845..30814531hg19UCSC Ensembl
chr17:27836958..27838644hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381687
hg191687
hg181687
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv574696, nsv574695
Samples
Known GenesCDK5R1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5524n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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