A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9321



Internal ID15500547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:638149..804328hg38UCSC Ensembl
Outerchr16:688149..854328hg19UCSC Ensembl
Outerchr16:628150..794329hg18UCSC Ensembl
Outerchr16:628150..794329hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38166180
hg19166180
hg18166180
hg17166180
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv21816, nssv22023, nssv21722, nssv27672, nssv23290, nssv22733, nssv25638
SamplesNA18980, NA07029, NA07048, NA10863, NA19221, NA18517, NA12740
Known GenesCCDC78, CHTF18, FAM173A, FAM195A, FBXL16, GNG13, HAGHL, JMJD8, METRN, MIR662, MSLN, NARFL, RHBDL1, RHOT2, RPUSD1, STUB1, WDR24, WDR90
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)nsv9321
Frequency
Sample Size31
Observed Gain6
Observed Loss1
Observed Complex0
Frequencyn/a


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