A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3216n100



Internal ID22789303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46135050..46215377hg38UCSC Ensembl
chr17:44212416..44292743hg19UCSC Ensembl
chr17:41568193..41648520hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3880328
hg1980328
hg1880328
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1063478, nsv1062807, nsv1065192, nsv1059710, nsv1064131, nsv1055227, nsv1062474, nsv1065000, nsv1057014, nsv1055379, nsv1061753, nsv1063018, nsv1056469, nsv1063377, nsv1061574, nsv1056099, nsv1066298, nsv1063603, nsv1060186, nsv1061617, nsv1057457, nsv1056080, nsv1063247
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)dgv3216n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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