A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5708n54



Internal ID20139132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:54962122..55083585hg38UCSC Ensembl
chr17:53039483..53160946hg19UCSC Ensembl
chr17:50394482..50515945hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38121464
hg19121464
hg18121464
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575664, nsv575663, nsv575662
Samples
Known GenesCOX11, STXBP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5708n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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