A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3227n100



Internal ID20154843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46144772..46172472hg38UCSC Ensembl
chr17:44222138..44249838hg19UCSC Ensembl
chr17:41577915..41605615hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3827701
hg1927701
hg1827701
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1057955, nsv1057241
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)dgv3227n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss8
Observed Complex0
Frequencyn/a


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