A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593285



Internal ID16034008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1247123..1249829hg38UCSC Ensembl
Innerchr4:1240911..1243617hg19UCSC Ensembl
Innerchr4:1230911..1233617hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg382707
hg192707
hg182707
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8892n54
Supporting Variantsnssv987669
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)nsv593285
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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