A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012028



Internal ID19101246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68548042..68615207hg38UCSC Ensembl
Innerchr4:69413760..69480925hg19UCSC Ensembl
Innerchr4:69096355..69163520hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3867166
hg1967166
hg1867166
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5274n100
Supporting Variantsnssv3743897
Samples
Known GenesUGT2B17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012028
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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