A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3186n100



Internal ID20154802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46084489..46177128hg38UCSC Ensembl
chr17:44161855..44254494hg19UCSC Ensembl
chr17:41517674..41610271hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3892640
hg1992640
hg1892598
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1066988, nsv1061782, nsv1056032, nsv1057867, nsv1061235, nsv1060827, nsv1057785, nsv1056867, nsv1066950, nsv1067361, nsv1061812, nsv1065692, nsv1064764, nsv1065304, nsv1055159, nsv1058013, nsv1064048, nsv1061615, nsv1059880, nsv1060493, nsv1058722, nsv1066538, nsv1055464, nsv1059518, nsv1063950, nsv1064625, nsv1059394, nsv1058000, nsv1056460, nsv1067035
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)dgv3186n100
Frequency
Sample Size29084
Observed Gain72
Observed Loss0
Observed Complex0
Frequencyn/a


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