A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583665



Internal ID16024388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:172595912..172778359hg38UCSC Ensembl
Innerchr2:173460640..173643087hg19UCSC Ensembl
Innerchr2:173168886..173351333hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38182448
hg19182448
hg18182448
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv925608
Samples
Known GenesPDK1, RAPGEF4, RAPGEF4-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583665
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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