A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9423



Internal ID15847335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:29380920..29384155hg38UCSC Ensembl
Outerchr16:29392241..29395476hg19UCSC Ensembl
Outerchr16:29299742..29302977hg18UCSC Ensembl
Outerchr16:29299742..29302977hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg383236
hg193236
hg183236
hg173236
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv22986, nssv23868, nssv26045, nssv24191, nssv22842, nssv23362
SamplesNA18563, NA19007, NA19144, NA19173, NA18972, NA18552
Known Genes
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)nsv9423
Frequency
Sample Size31
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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