A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9455



Internal ID15500681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:70110189..70201429hg38UCSC Ensembl
Outerchr16:70144092..70235332hg19UCSC Ensembl
Outerchr16:68701593..68792833hg18UCSC Ensembl
Outerchr16:68701593..68792833hg17UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3891241
hg1991241
hg1891241
hg1791241
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv23710, nssv26499, nssv20629, nssv26736, nssv21191, nssv26513, nssv25038, nssv23931, nssv20650, nssv24244, nssv22584, nssv23578, nssv25412, nssv26469, nssv24463, nssv24559, nssv23412, nssv25063, nssv21832
SamplesNA12802, NA18975, NA19173, NA10839, NA18972, NA19144, NA12155, NA12740, NA18572, NA18502, NA12872, NA18564, NA18942, NA18552, NA19132, NA11830, NA19240
Known GenesCLEC18C, PDPR
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)nsv9455
Frequency
Sample Size31
Observed Gain1
Observed Loss16
Observed Complex0
Frequencyn/a


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