A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv925608



Internal ID15872878
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 StatusS
Merged Variantsnsv583665
Supporting Variants
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)nssv925608
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer