A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9345



Internal ID15500571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:10105581..10108770hg38UCSC Ensembl
Outerchr16:10199438..10202627hg19UCSC Ensembl
Outerchr16:10106939..10110128hg18UCSC Ensembl
Outerchr16:10106939..10110128hg17UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg383190
hg193190
hg183190
hg173190
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv25735, nssv20140, nssv23309
SamplesNA12802, NA19173, NA18517
Known GenesGRIN2A
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)nsv9345
Frequency
Sample Size31
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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