A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5632n54



Internal ID20139056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46182324..46193106hg38UCSC Ensembl
chr17:44259690..44270472hg19UCSC Ensembl
chr17:41615467..41626249hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3810783
hg1910783
hg1810783
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575211, nsv575213, nsv575212, nsv575209
Samples
Known GenesKANSL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5632n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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