A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596451



Internal ID16037174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:187540004..188139952hg38UCSC Ensembl
Innerchr4:188461158..189061106hg19UCSC Ensembl
Innerchr4:188698152..189298100hg18UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38599949
hg19599949
hg18599949
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9440n54
Supporting Variantsnssv1020488
Samples
Known GenesTRIML1, TRIML2, ZFP42
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596451
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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