A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3201n100



Internal ID20154817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46110933..46203331hg38UCSC Ensembl
chr17:44188299..44280697hg19UCSC Ensembl
chr17:41544082..41636474hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3892399
hg1992399
hg1892393
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1062691, nsv1062174, nsv1066798, nsv1055440, nsv1062837, nsv1055182
Samples
Known GenesKANSL1, KANSL1-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3201n100
Frequency
Sample Size29084
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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