A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9452



Internal ID15847364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:69942123..69974296hg38UCSC Ensembl
Outerchr16:69976026..70008199hg19UCSC Ensembl
Outerchr16:68533527..68565700hg18UCSC Ensembl
Outerchr16:68533527..68565700hg17UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3832174
hg1932174
hg1832174
hg1732174
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26441, nssv22524, nssv26485, nssv23550, nssv23904, nssv21742, nssv24533
SamplesNA18942, NA18975, NA19132, NA19144, NA12740, NA18972, NA18552
Known GenesCLEC18A
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)nsv9452
Frequency
Sample Size31
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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