A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5662n100



Internal ID22791749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:50159790..50268984hg38UCSC Ensembl
chr5:49455624..49564818hg19UCSC Ensembl
chr5:49491381..49600575hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg38109195
hg19109195
hg18109195
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1016253, nsv1028131, nsv1034318, nsv1033820, nsv1017682
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5662n100
Frequency
Sample Size11257
Observed Gain27
Observed Loss6
Observed Complex0
Frequencyn/a


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