A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7166n100



Internal ID20158782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:39345917..39552463hg38UCSC Ensembl
chr8:39203436..39409982hg19UCSC Ensembl
chr8:39322593..39529139hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38206547
hg19206547
hg18206547
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1026726, nsv1027074, nsv1018553, nsv1018876, nsv1033469, nsv1016245, nsv1028511, nsv1021405, nsv1033610, nsv1030612, nsv1025311, nsv1020995, nsv1033749, nsv1029418, nsv1027888, nsv1015577, nsv1015985, nsv1029546, nsv1027693, nsv1034653, nsv1027898, nsv1021805, nsv1027332, nsv1015464, nsv1015278, nsv1033021, nsv1020618, nsv1029138, nsv1016114, nsv1021552, nsv1029746, nsv1017384, nsv1027692, nsv1020302, nsv1015620, nsv1018777, nsv1030563, nsv1023010, nsv1024032, nsv1025103, nsv1028843, nsv1031780, nsv1032069, nsv1024471, nsv1024105, nsv1023103, nsv1017870, nsv1026873, nsv1017106, nsv1029686, nsv1030284, nsv1028352
Samples
Known GenesADAM3A, ADAM5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7166n100
Frequency
Sample Size29084
Observed Gain659
Observed Loss0
Observed Complex0
Frequencyn/a


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