A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9919



Internal ID15501145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:44881185..45172071hg38UCSC Ensembl
Outerchr22:45277065..45567952hg19UCSC Ensembl
Outerchr22:43655729..43946616hg18UCSC Ensembl
Outerchr22:43597602..43888489hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38290887
hg19290888
hg18290888
hg17290888
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26142, nssv24743, nssv27966, nssv25430, nssv26080, nssv27882
SamplesNA18563, NA18942, NA18975, NA19007, NA19132, NA18972
Known GenesLOC100506714, NUP50, PHF21B
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)nsv9919
Frequency
Sample Size31
Observed Gain1
Observed Loss5
Observed Complex0
Frequencyn/a


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