A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9894



Internal ID15847806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:26630396..26636796hg38UCSC Ensembl
Outerchr22:27026360..27032760hg19UCSC Ensembl
Outerchr22:25356360..25362760hg18UCSC Ensembl
Outerchr22:25350914..25357314hg17UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg386401
hg196401
hg186401
hg176401
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27975
SamplesNA18517
Known GenesCRYBA4
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nsv9894
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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