A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593293



Internal ID16034016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1248488..1249785hg38UCSC Ensembl
Innerchr4:1242276..1243573hg19UCSC Ensembl
Innerchr4:1232276..1233573hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381298
hg191298
hg181298
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv987682
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)nsv593293
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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