A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594534



Internal ID16381943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68536587..68603525hg38UCSC Ensembl
Innerchr4:69402305..69469243hg19UCSC Ensembl
Innerchr4:69084900..69151838hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3866939
hg1966939
hg1866939
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9109n54
Supporting Variantsnssv1001969
Samples
Known GenesUGT2B17
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594534
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