A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3212n100



Internal ID20154828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46130778..46177128hg38UCSC Ensembl
chr17:44208144..44254494hg19UCSC Ensembl
chr17:41563921..41610271hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3846351
hg1946351
hg1846351
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1056612, nsv1063151, nsv1057384, nsv1055712, nsv1063973, nsv1061854, nsv1067513, nsv1059537, nsv1065493, nsv1056701, nsv1056112, nsv1059508, nsv1057196, nsv1056498, nsv1066744, nsv1067243, nsv1063793, nsv1061188
Samples
Known GenesKANSL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3212n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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