A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011989



Internal ID18754525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:69622101..69656037hg38UCSC Ensembl
Innerchr4:70487819..70521755hg19UCSC Ensembl
Innerchr4:70522408..70556344hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3833937
hg1933937
hg1833937
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5318n100
Supporting Variantsnssv3633064
Samples
Known GenesUGT2A1, UGT2A2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011989
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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