A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3182n100



Internal ID22789269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46073409..46215377hg38UCSC Ensembl
chr17:44150775..44292743hg19UCSC Ensembl
chr17:41506597..41648520hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38141969
hg19141969
hg18141924
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1056046, nsv1055505, nsv1060569, nsv1061529, nsv1059527, nsv1066141, nsv1062041, nsv1055768, nsv1060324, nsv1059944, nsv1057742, nsv1058334, nsv1066989, nsv1055908, nsv1065292, nsv1065107, nsv1058469, nsv1058857, nsv1060625, nsv1057611, nsv1056253, nsv1066733, nsv1064298, nsv1066750, nsv1056476, nsv1065381, nsv1067318, nsv1059981, nsv1058929, nsv1058597, nsv1059926, nsv1062599, nsv1055656, nsv1061572, nsv1059692, nsv1066592, nsv1060667, nsv1067503, nsv1059809, nsv1063436, nsv1055421, nsv1064926, nsv1057176
Samples
Known GenesKANSL1, KANSL1-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3182n100
Frequency
Sample Size11257
Observed Gain194
Observed Loss0
Observed Complex0
Frequencyn/a


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