A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3183n100



Internal ID20154799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46078703..46148520hg38UCSC Ensembl
chr17:44156069..44225886hg19UCSC Ensembl
chr17:41511888..41581663hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3869818
hg1969818
hg1869776
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1064173, nsv1065284, nsv1061156, nsv1057546, nsv1059613, nsv1063402, nsv1063329, nsv1057512, nsv1060059, nsv1061620, nsv1060080, nsv1058065, nsv1066386, nsv1059166, nsv1055413, nsv1060580, nsv1059857, nsv1055741, nsv1055524, nsv1065536, nsv1062151
Samples
Known GenesKANSL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3183n100
Frequency
Sample Size29084
Observed Gain69
Observed Loss0
Observed Complex0
Frequencyn/a


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