A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4444n100



Internal ID20156060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46599898..46677033hg38UCSC Ensembl
chr21:48019811..48096945hg19UCSC Ensembl
chr21:46844239..46921373hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3877136
hg1977135
hg1877135
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1058993, nsv1060002, nsv1062021, nsv1060360, nsv1061192, nsv1056829
Samples
Known GenesPRMT2, S100B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4444n100
Frequency
Sample Size29084
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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