A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv914561



Internal ID6276488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:51013772..51024837hg19UCSC Ensembl
Outerchr22:51013072..51026207hg19UCSC Ensembl
Innerchr22:49360638..49371703hg18UCSC Ensembl
Outerchr22:49359938..49373073hg18UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1501056
SamplesSP51109
Known GenesCHKB, CHKB-CPT1B, CPT1B, LOC100144603
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv914561
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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