A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593295



Internal ID16034018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1248804..1250089hg38UCSC Ensembl
Innerchr4:1242592..1243877hg19UCSC Ensembl
Innerchr4:1232592..1233877hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381286
hg191286
hg181286
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8894n54
Supporting Variantsnssv987684
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)nsv593295
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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