A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5599n54



Internal ID22773494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42275938..42276943hg38UCSC Ensembl
chr17:40427956..40428961hg19UCSC Ensembl
chr17:37681482..37682487hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg381006
hg191006
hg181006
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575050, nsv575047, nsv575049, nsv575045, nsv575048
Samples
Known GenesSTAT5B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5599n54
Frequency
Sample Size17421
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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