A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3188n100



Internal ID20154804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46085720..46717377hg38UCSC Ensembl
chr17:44163086..44794743hg19UCSC Ensembl
chr17:41518904..42149927hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38631658
hg19631658
hg18631024
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1066351, nsv1061764, nsv1061938, nsv1060060, nsv1058972, nsv1059665, nsv1066393, nsv1056422, nsv1065913, nsv1058611, nsv1056742, nsv1056870, nsv1058562, nsv1064395, nsv1060530, nsv1060771, nsv1056308, nsv1060642, nsv1057954, nsv1058316, nsv1061712, nsv1065338, nsv1066926, nsv1063228, nsv1059370, nsv1064769, nsv1056882, nsv1065398, nsv1058683, nsv1061421, nsv1062961, nsv1057451, nsv1063419, nsv1066880, nsv1058053, nsv1065001, nsv1057570, nsv1055785, nsv1065317, nsv1056629, nsv1056107, nsv1066392, nsv1066879, nsv1067514, nsv1060274, nsv1056159, nsv1058114, nsv1060005, nsv1066495, nsv1058898, nsv1058979, nsv1063203, nsv1064750, nsv1056063, nsv1061944, nsv1066943
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, NSF, NSFP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3188n100
Frequency
Sample Size29084
Observed Gain108
Observed Loss0
Observed Complex0
Frequencyn/a


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