A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3208n100



Internal ID22789295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46120237..46286792hg38UCSC Ensembl
chr17:44197603..44364158hg19UCSC Ensembl
chr17:41553381..41719935hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38166556
hg19166556
hg18166555
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1056340, nsv1059693, nsv1066476, nsv1056664, nsv1062141, nsv1056724, nsv1065146, nsv1057971, nsv1065111, nsv1062514, nsv1056536, nsv1062821, nsv1059376, nsv1056246, nsv1057482, nsv1062407, nsv1065325, nsv1061218, nsv1067053, nsv1065154, nsv1064453, nsv1065373, nsv1061828
Samples
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3208n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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