A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5118n100



Internal ID20156734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:9800522..9976790hg38UCSC Ensembl
chr4:9802146..9978414hg19UCSC Ensembl
chr4:9411244..9587512hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38176269
hg19176269
hg18176269
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1004311, nsv1007593
Samples
Known GenesSLC2A9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5118n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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