A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3551n100



Internal ID20155167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42707118..42873123hg38UCSC Ensembl
chr19:43211270..43377275hg19UCSC Ensembl
chr19:47903110..48069115hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38166006
hg19166006
hg18166006
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1062196, nsv1065465, nsv1063724, nsv1063131, nsv1055408, nsv1056871, nsv1060190, nsv1055726, nsv1064332, nsv1066275, nsv1058244, nsv1057113, nsv1063192, nsv1055747, nsv1059355, nsv1064731, nsv1064932, nsv1064141, nsv1063832
Samples
Known GenesLOC100289650, PSG1, PSG10P, PSG3, PSG8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3551n100
Frequency
Sample Size29084
Observed Gain45
Observed Loss0
Observed Complex0
Frequencyn/a


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