A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012373



Internal ID19101590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:69420610..69493414hg38UCSC Ensembl
Innerchr4:70286328..70359132hg19UCSC Ensembl
Innerchr4:70320917..70393721hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3872805
hg1972805
hg1872805
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5317n100
Supporting Variantsnssv3633054
Samples
Known GenesUGT2B4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012373
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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