A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5518n54



Internal ID20138942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30056691..30188461hg38UCSC Ensembl
chr17:28383709..28515479hg19UCSC Ensembl
chr17:25407835..25539605hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38131771
hg19131771
hg18131771
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv574664, nsv574663
Samples
Known GenesEFCAB5, MIR3184, MIR423, NSRP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5518n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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