A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8893n54



Internal ID20142317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1247964..1249785hg38UCSC Ensembl
chr4:1241752..1243573hg19UCSC Ensembl
chr4:1231752..1233573hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381822
hg191822
hg181822
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv593292, nsv593288, nsv593289
Samples
Known GenesCTBP1, CTBP1-AS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8893n54
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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