A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593289



Internal ID16034012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1247964..1249601hg38UCSC Ensembl
Innerchr4:1241752..1243389hg19UCSC Ensembl
Innerchr4:1231752..1233389hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381638
hg191638
hg181638
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8893n54
Supporting Variantsnssv987675, nssv987673, nssv987674
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)nsv593289
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer