A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3181n100



Internal ID22789268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46068223..46286792hg38UCSC Ensembl
chr17:44145589..44364158hg19UCSC Ensembl
chr17:41501411..41719935hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38218570
hg19218570
hg18218525
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1057256, nsv1067056, nsv1057638, nsv1061266, nsv1061713, nsv1064538, nsv1064796, nsv1059605, nsv1064373, nsv1055215, nsv1063221, nsv1056429, nsv1056074, nsv1060846, nsv1064548, nsv1057886, nsv1061484, nsv1065164, nsv1056260, nsv1061806, nsv1059239, nsv1065032, nsv1062113, nsv1057045, nsv1061883, nsv1055533, nsv1058676, nsv1057646, nsv1058569, nsv1063234, nsv1066681, nsv1062135, nsv1059546, nsv1064763, nsv1067221, nsv1061644, nsv1057289, nsv1065483, nsv1059408, nsv1065797, nsv1056098, nsv1061086, nsv1060875, nsv1063014
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)dgv3181n100
Frequency
Sample Size11257
Observed Gain932
Observed Loss0
Observed Complex0
Frequencyn/a


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