A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010353



Internal ID18752884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:69622101..69651773hg38UCSC Ensembl
Innerchr4:70487819..70517491hg19UCSC Ensembl
Innerchr4:70522408..70552080hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3829673
hg1929673
hg1829673
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5318n100
Supporting Variantsnssv3633062, nssv3633063
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)nsv1010353
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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