A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3199n100



Internal ID22789286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46104201..46202822hg38UCSC Ensembl
chr17:44181567..44280188hg19UCSC Ensembl
chr17:41537379..41635965hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3898622
hg1998622
hg1898587
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1059150, nsv1064073, nsv1067516, nsv1060612, nsv1059254, nsv1061170, nsv1057338, nsv1059385, nsv1062276, nsv1061558, nsv1064188, nsv1062887, nsv1059175, nsv1055345, nsv1055270, nsv1060128, nsv1062820, nsv1060157, nsv1059889, nsv1065529, nsv1058270
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)dgv3199n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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