A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4547n100



Internal ID22790634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25253242..25531841hg38UCSC Ensembl
chr22:25649209..25927808hg19UCSC Ensembl
chr22:23979209..24257808hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38278600
hg19278600
hg18278600
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1060290, nsv1055715, nsv1063074, nsv1057679, nsv1056560, nsv1061015, nsv1062831, nsv1057786, nsv1062685, nsv1057042, nsv1062436, nsv1065261, nsv1055942, nsv1065695, nsv1067385, nsv1066116, nsv1058210, nsv1059815, nsv1056231, nsv1056415, nsv1064795, nsv1061052, nsv1067322, nsv1058094, nsv1060046, nsv1062992, nsv1056488, nsv1064875, nsv1056271, nsv1056018, nsv1056922, nsv1055571, nsv1060527, nsv1062604, nsv1055514, nsv1064774, nsv1058712, nsv1062972, nsv1057896, nsv1062032, nsv1058374, nsv1055929, nsv1055724, nsv1056078, nsv1066219, nsv1065937, nsv1057402, nsv1063108, nsv1058674, nsv1062686, nsv1062434, nsv1063503, nsv1062492, nsv1058795, nsv1059571, nsv1062726, nsv1060222, nsv1061675, nsv1064381, nsv1056778, nsv1059410, nsv1062815, nsv1066165, nsv1063154
Samples
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4547n100
Frequency
Sample Size11257
Observed Gain110
Observed Loss0
Observed Complex0
Frequencyn/a


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