A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5068n71



Internal ID6322688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:51013998..51066921hg19UCSC Ensembl
chr22:49360864..49413787hg18UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnsv914563, nsv914562
SamplesSP54225, SP54725
Known GenesARSA, CHKB, CHKB-CPT1B, CPT1B, LOC100144603, MAPK8IP2
Method
Analysis
Platform
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)dgv5068n71
Frequency
Sample Size6533
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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