A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv914559



Internal ID6276486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50984055..51048514hg19UCSC Ensembl
Outerchr22:50980818..51053719hg19UCSC Ensembl
Innerchr22:49330921..49395380hg18UCSC Ensembl
Outerchr22:49327684..49400585hg18UCSC 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 Variantsnssv1584904
SamplesIS37172
Known GenesC22orf41, CHKB, CHKB-CPT1B, CPT1B, KLHDC7B, LOC100144603, MAPK8IP2
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv914559
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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