A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9916



Internal ID15501142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:44701634..44703556hg38UCSC Ensembl
Outerchr22:45097514..45099436hg19UCSC Ensembl
Outerchr22:43476178..43478100hg18UCSC Ensembl
Outerchr22:43418051..43419973hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381923
hg191923
hg181923
hg171923
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv23299, nssv26340, nssv27380, nssv27421, nssv26061, nssv23037, nssv26434
SamplesNA12155, NA18563, NA12740, NA18572, NA12872, NA18504, NA11830
Known GenesPRR5, PRR5-ARHGAP8
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)nsv9916
Frequency
Sample Size31
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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