A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5066n71



Internal ID6322686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50929581..51072161hg19UCSC Ensembl
chr22:49276447..49419027hg18UCSC 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 Variantsnsv914553, nsv914550, nsv914551
SamplesIS39363, SP54988, IS32322
Known GenesARSA, C22orf41, CHKB, CHKB-CPT1B, CPT1B, KLHDC7B, LMF2, LOC100144603, MAPK8IP2, NCAPH2, ODF3B, SCO2, TYMP
Method
Analysis
Platform
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)dgv5066n71
Frequency
Sample Size6533
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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