A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9659



Internal ID15500885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:322796..325648hg38UCSC Ensembl
Outerchr19:322796..325648hg19UCSC Ensembl
Outerchr19:273796..276648hg18UCSC Ensembl
Outerchr19:273796..276648hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg382853
hg192853
hg182853
hg172853
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27381, nssv25151
SamplesNA18502, NA18980
Known GenesMIER2
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)nsv9659
Frequency
Sample Size31
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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