A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011238



Internal ID18753772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68506273..68618379hg38UCSC Ensembl
Innerchr4:69371991..69484097hg19UCSC Ensembl
Innerchr4:69054586..69166692hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38112107
hg19112107
hg18112107
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5261n100
Supporting Variantsnssv3740670, nssv3628294, nssv3628292, nssv3740666, nssv3628299, nssv3628291, nssv3740662, nssv3628300, nssv3740665, nssv3740663, nssv3740677, nssv3740667, nssv3628298, nssv3740669, nssv3628297, nssv3628296, nssv3740678, nssv3740674, nssv3740671, nssv3628295, nssv3740672, nssv3740675, nssv3740676, nssv3740668, nssv3740673, nssv3740664, nssv3628293
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)nsv1011238
Frequency
Sample Size29084
Observed Gain27
Observed Loss0
Observed Complex0
Frequencyn/a


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