A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv564n100



Internal ID20152180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206468707..206488531hg38UCSC Ensembl
chr1:206642050..206661868hg19UCSC Ensembl
chr1:204708673..204728491hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3819825
hg1919819
hg1819819
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1013172, nsv1010049
Samples
Known GenesIKBKE, MIR6769B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv564n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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