A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8472



Internal ID15846384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:41286886..41575124hg38UCSC Ensembl
Outerchr9:45369909..46057231hg19UCSC Ensembl
Outerchr9:45259905..45947227hg18UCSC Ensembl
Outerchr9:44308845..44609976hg17UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg38288239
hg19687323
hg18687323
hg17301132
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv20691, nssv19648, nssv18659, nssv22590, nssv22620, nssv17785, nssv18347, nssv17896, nssv17840, nssv21353, nssv18579
SamplesNA18980, NA18563, NA18860, NA19221, NA18853, NA19144, NA12740, NA19173, NA18972, NA18552
Known GenesFAM27A, FAM27E2
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)nsv8472
Frequency
Sample Size31
Observed Gain7
Observed Loss4
Observed Complex0
Frequencyn/a


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