A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998658



Internal ID19158194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68506273..68615992hg38UCSC Ensembl
Innerchr4:69371991..69481710hg19UCSC Ensembl
Innerchr4:69054586..69164305hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38109720
hg19109720
hg18109720
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5261n100
Supporting Variantsnssv3740656, nssv3628289, nssv3740653, nssv3628283, nssv3627172, nssv3628282, nssv3628286, nssv3740655, nssv3740657, nssv3740660, nssv3628287, nssv3740654, nssv3627173, nssv3628281, nssv3628288, nssv3740658, nssv3628290, nssv3628284, nssv3628285, nssv3740661, nssv3740659
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)nsv998658
Frequency
Sample Size11257
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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