A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9416



Internal ID15500642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:28588506..28616750hg38UCSC Ensembl
Outerchr16:28599827..28628071hg19UCSC Ensembl
Outerchr16:28507328..28535572hg18UCSC Ensembl
Outerchr16:28507328..28535572hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3828245
hg1928245
hg1828245
hg1728245
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv22814, nssv20315, nssv22503, nssv21142, nssv25296, nssv21112, nssv27883, nssv22785, nssv23306, nssv26463, nssv26772, nssv22946, nssv23460
SamplesNA10839, NA10847, NA18860, NA12740, NA07048, NA18502, NA18504, NA18564, NA18942, NA19221, NA19007
Known GenesCCDC101, SULT1A1, SULT1A2
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)nsv9416
Frequency
Sample Size31
Observed Gain4
Observed Loss7
Observed Complex0
Frequencyn/a


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