A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9346



Internal ID15500572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:10166062..10168263hg38UCSC Ensembl
Outerchr16:10259919..10262120hg19UCSC Ensembl
Outerchr16:10167420..10169621hg18UCSC Ensembl
Outerchr16:10167420..10169621hg17UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg382202
hg192202
hg182202
hg172202
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv22233
SamplesNA07048
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)nsv9346
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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