A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9918



Internal ID15847830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:44738952..44743076hg38UCSC Ensembl
Outerchr22:45134832..45138956hg19UCSC Ensembl
Outerchr22:43513496..43517620hg18UCSC Ensembl
Outerchr22:43455369..43459493hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg384125
hg194125
hg184125
hg174125
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26660, nssv27875, nssv28172, nssv27960, nssv28768, nssv25405, nssv27439, nssv26786
SamplesNA18504, NA18860, NA18975, NA19221, NA18537, NA19132, NA19144, NA18972
Known GenesPRR5-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)nsv9918
Frequency
Sample Size31
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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