A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv914556



Internal ID6276483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50964236..50987287hg19UCSC Ensembl
Outerchr22:50962208..50988062hg19UCSC Ensembl
Innerchr22:49311102..49334153hg18UCSC Ensembl
Outerchr22:49309074..49334928hg18UCSC 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 Variantsnssv1501573
SamplesSP51109
Known GenesKLHDC7B, NCAPH2, ODF3B, SCO2, TYMP
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv914556
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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