A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593294



Internal ID16034017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1248804..1249987hg38UCSC Ensembl
Innerchr4:1242592..1243775hg19UCSC Ensembl
Innerchr4:1232592..1233775hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381184
hg191184
hg181184
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8894n54
Supporting Variantsnssv987683
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)nsv593294
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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