A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4438n100



Internal ID20156054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45462733..45559862hg38UCSC Ensembl
chr21:46882647..46979776hg19UCSC Ensembl
chr21:45707075..45804204hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3897130
hg1997130
hg1897130
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1064108, nsv1066039, nsv1065095, nsv1059903, nsv1056757, nsv1058905, nsv1056550, nsv1056939, nsv1064667, nsv1056986, nsv1060416, nsv1062243, nsv1063038, nsv1065126
Samples
Known GenesCOL18A1, MIR6815, SLC19A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4438n100
Frequency
Sample Size29084
Observed Gain57
Observed Loss0
Observed Complex0
Frequencyn/a


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