A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3228n100



Internal ID20154844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46147167..46171482hg38UCSC Ensembl
chr17:44224533..44248848hg19UCSC Ensembl
chr17:41580310..41604625hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3824316
hg1924316
hg1824316
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1055782, nsv1066820, nsv1059361, nsv1056036, nsv1059256, nsv1055456, nsv1065331, nsv1064682
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)dgv3228n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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